NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser) AND not specified

Clinical significance:Uncertain significance (Last evaluated: May 11, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000151200.1

Allele description [Variation Report for NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser)]

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

Gene:
MYH14:myosin heavy chain 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser)
HGVS:
  • NC_000019.10:g.50286647G>T
  • NG_011645.1:g.88020G>T
  • NM_001077186.2:c.4606G>T
  • NM_001145809.2:c.4705G>TMANE SELECT
  • NM_024729.3:c.4582G>T
  • NP_001070654.1:p.Ala1536Ser
  • NP_001139281.1:p.Ala1569Ser
  • NP_079005.3:p.Ala1528Ser
  • NC_000019.9:g.50789904G>T
  • NM_001145809.1:c.4705G>T
Protein change:
A1528S
Links:
dbSNP: rs145522874
NCBI 1000 Genomes Browser:
rs145522874
Molecular consequence:
  • NM_001077186.2:c.4606G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145809.2:c.4705G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024729.3:c.4582G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000199031Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(May 11, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000199031.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The Ala1569Ser vari ant in MYH14 has not been previously reported in individuals with hearing loss, but has been identified in 0.07% (3/4202) of African American chromosomes and 0. 01% (1/8436) European American chromosomes by the NHLBI Exome Sequencing Project , and in 1.0% (2/190) of Luhya (Kenyan) chromosomes and 0.8% (1/119) of Columbia n chromosomes by the 1000 Genomes Project (http://evs.gs.washington.edu/EVS/; db SNP rs145522874). Computational prediction tools and conservation analyses do no t provide strong support for or against an impact to the protein. In summary, wh ile the clinical significance of the Ala1569Ser variant is uncertain, its presen ce in several racially diverse populations at a range of frequencies (0.01% - 1. 0%) suggests a more likely benign role.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Aug 27, 2021

Support Center