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NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jul 4, 2021)
Last evaluated:
Aug 1, 2020
Accession:
VCV000196613.6
Variation ID:
196613
Description:
single nucleotide variant
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NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)

Allele ID
193774
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.12
Genomic location
19: 36103640 (GRCh38) GRCh38 UCSC
19: 36594542 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.36103640C>T
NC_000019.9:g.36594542C>T
NM_001083961.2:c.3812C>T MANE Select NP_001077430.1:p.Ala1271Val missense
... more HGVS
Protein change
A1271V, A1266V
Other names
-
Canonical SPDI
NC_000019.10:36103639:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00283
1000 Genomes Project 0.00140
Exome Aggregation Consortium (ExAC) 0.00296
The Genome Aggregation Database (gnomAD) 0.00308
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00446
Trans-Omics for Precision Medicine (TOPMed) 0.00273
Links
ClinGen: CA207617
dbSNP: rs111294536
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 3 criteria provided, multiple submitters, no conflicts Dec 8, 2017 RCV000193857.4
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Aug 1, 2020 RCV000714196.4
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000351552.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WDR62 - - GRCh38
GRCh37
479 491

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 23, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000249452.1
Submitted: (Sep 15, 2015)
Evidence details
Likely benign
(Dec 08, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000515265.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jun 13, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844883.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Oct 19, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000229307.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Primary autosomal recessive microcephaly 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000411669.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001037430.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Aug 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001500174.2
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

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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

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=WDR62 - - - -

Text-mined citations for rs111294536...

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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