Genetic variant

rs6929137 a variant in the CCDC170 gene

rs6929137 is a single-letter difference in the CCDC170 gene, on chromosome 6. ClinVar, the public archive of variant interpretations, lists it as conflicting interpretations: laboratories that have assessed it do not agree on whether it matters. It has been reported in connection with Estrogen resistance syndrome and CCDC170-related condition. Carrying it does not, on its own, mean you have or will develop any condition.

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What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs6929137 is the catalogue number of one of them, in the CCDC170 gene. Which letters you carry there — one copy from each parent — is your genotype.

CCDC170 (coiled-coil domain containing 170): The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]

Gene description from NCBI Gene

rs6929137 increases susceptibility to Bone mineral density variations, lower for carriers of the A a...

From SNPedia

Why might it matter?

ClinVar records this variant as conflicting interpretations, meaning laboratories that have assessed it do not agree on whether it matters. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Do I have this variant?

If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs6929137, if your test read this position.

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Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

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What should I do next?

  1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
  2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
  3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
  4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
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This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID
rs6929137
Gene
CCDC170
Position (GRCh38)
chr6:151615541
Variant type
snv
Consequence
missense variant
ClinVar classification
Conflicting classifications of pathogenicity

Genome-wide association studies (4)

TraitRisk alleleOR / betaP-valueStudy
Breast cancer — OR 1.12 2E-13 PubMed
Bone mineral density mean — — 9E-11 PubMed
Bone mineral density (spine) A β 0.1 2E-10 PubMed
Postmenopausal breast cancer A β 0.098 3E-10 PubMed

How common the less frequent letter is

gnomAD ALL
67.5%
1kG AFR
50.4%
1kG ALL
65.1%
1kG AMR
75.5%
1kG EAS
33.3%
1kG EUR
70.5%
1kG SAS
29.8%

Sources