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NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003335137.1

Allele description [Variation Report for NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His)]

NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His)

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.4088G>A (p.Arg1363His)
HGVS:
  • NC_000019.10:g.50280092G>A
  • NG_011645.1:g.81465G>A
  • NM_001077186.2:c.3989G>A
  • NM_001145809.2:c.4088G>AMANE SELECT
  • NM_024729.3:c.3965G>A
  • NM_024729.4:c.3965G>A
  • NP_001070654.1:p.Arg1330His
  • NP_001139281.1:p.Arg1363His
  • NP_079005.3:p.Arg1322His
  • NC_000019.9:g.50783349G>A
  • NM_001145809.1:c.4088G>A
  • NM_001145809.2:c.4088G>A
Protein change:
R1322H
Links:
dbSNP: rs727504915
NCBI 1000 Genomes Browser:
rs727504915
Molecular consequence:
  • NM_001077186.2:c.3989G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145809.2:c.4088G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024729.4:c.3965G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 4A
Synonyms:
Deafness, autosomal dominant 4; Deafness, autosomal dominant 4A
Identifiers:
MONDO: MONDO:0010915; MedGen: C1833503; Orphanet: 90635; OMIM: 600652
Name:
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Synonyms:
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Identifiers:
MONDO: MONDO:0013711; MedGen: C3280556; Orphanet: 397744; OMIM: 614369

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004046552New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Apr 6, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV004046552.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.4088G>A p.(Arg1363His) variant identified in MYH14 has not previously been reported in the affected individuals in the literature and it has been deposited in ClinVar [ClinVar ID: 179510] as a Variant of Uncertain Significance (2 submissions). The c.4088G>A variant is observed in 23 out of ~582,722 heterozygous alleles (0.0039% minor allele frequency with 0 homozygotes) in population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8). The c.4088G>A variant is located in exon 31 of this 43-exon gene and is predicted to replace a moderately conserved arginine amino acid with histidine at position 1363 in the encoded protein. In silico predictions are not in favor of the damaging effect for the p.(Arg1363His) variant [REVEL = 0.388)]; however, there are no functional studiesto support or refute these predictions. A different missense variant p.(Arg1363Cys) affecting the same amino acid residue has been reported in ClinVar [ClinVar ID:1195791] as a Variant of Uncertain Significance (1 submission).Based on available evidence, this c.4088G>A p.(Arg1363His) variant identified in MYH14 is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024