Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Aug 20, 2020
Accession:
VCV000243009.10
Variation ID:
243009
Description:
single nucleotide variant
Help

NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser)

Allele ID
244090
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p24.3
Genomic location
9: 894044 (GRCh38) GRCh38 UCSC
9: 894044 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.894044A>G
NC_000009.12:g.894044A>G
NM_021951.3:c.671A>G MANE Select NP_068770.2:p.Asn224Ser missense
... more HGVS
Protein change
N224S, N66S
Other names
DMRT1, ASN224SER (rs140506267)
Canonical SPDI
NC_000009.12:894043:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00255
1000 Genomes Project 0.00240
The Genome Aggregation Database (gnomAD), exomes 0.00272
The Genome Aggregation Database (gnomAD) 0.00111
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00161
Trans-Omics for Precision Medicine (TOPMed) 0.00088
Links
ClinGen: CA4961619
OMIM: 602424.0001
dbSNP: rs140506267
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Aug 20, 2020 RCV000235005.4
Uncertain significance 1 criteria provided, single submitter Jun 7, 2020 RCV000845253.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DMRT1 Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
31 213

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 07, 2020)
criteria provided, single submitter
Method: research
Non-obstructive azoospermia
Allele origin: unknown
Institute of Reproductive Genetics, University of M√ľnster
Accession: SCV000987211.2
Submitted: (Jun 07, 2020)
Evidence details
Publications
PubMed (1)
Benign
(Aug 20, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001732499.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jan 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001155587.6
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(Sep 11, 2018)
no assertion criteria provided
Method: literature only
VARIANT OF UNKNOWN SIGNIFICANCE
Allele origin: germline
OMIM
Accession: SCV000292373.2
Submitted: (Jul 13, 2016)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes. Araujo TF Andrology 2020 PMID: 31479588
DMRT1 mutations are rarely associated with male infertility. Tewes AC Fertility and sterility 2014 PMID: 24934491

Text-mined citations for rs140506267...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 10, 2021