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NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 19, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000164199.4
Variation ID:
164199
Description:
single nucleotide variant
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NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser)

Allele ID
176200
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.33
Genomic location
19: 50286647 (GRCh38) GRCh38 UCSC
19: 50789904 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.50286647G>T
NC_000019.9:g.50789904G>T
NM_001145809.2:c.4705G>T MANE Select NP_001139281.1:p.Ala1569Ser missense
... more HGVS
Protein change
A1569S, A1536S, A1528S
Other names
-
Canonical SPDI
NC_000019.10:50286646:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00032
Trans-Omics for Precision Medicine (TOPMed) 0.00030
1000 Genomes Project 0.00100
The Genome Aggregation Database (gnomAD) 0.00035
The Genome Aggregation Database (gnomAD), exomes 0.00009
Exome Aggregation Consortium (ExAC) 0.00018
Links
ClinGen: CA176915
dbSNP: rs145522874
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 11, 2014 RCV000151200.1
Likely benign 2 criteria provided, single submitter Dec 31, 2019 RCV000898608.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYH14 - - GRCh38
GRCh37
628 647

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 11, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000199031.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The Ala1569Ser vari ant in MYH14 has not been previously reported in individuals with hearing loss, but … (more)
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001042824.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Aug 04, 2021)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001794136.1
Submitted: (Aug 19, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs145522874...

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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 Aug 27, 2021