NM_016239.4(MYO15A):c.6436C>T (p.Arg2146Trp) AND Ear malformation

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 10, 2021
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:: RCV001814491.2

Allele description [Variation Report for NM_016239.4(MYO15A):c.6436C>T (p.Arg2146Trp)]

NM_016239.4(MYO15A):c.6436C>T (p.Arg2146Trp)

Gene:

MYO15A:myosin XVA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_016239.4(MYO15A):c.6436C>T (p.Arg2146Trp)

HGVS:

NC_000017.11:g.18146034C>T
NG_011634.2:g.42329C>T
NM_016239.4:c.6436C>TMANE SELECT
NP_057323.3:p.Arg2146Trp
NC_000017.10:g.18049348C>T
NM_016239.3:c.6436C>T

Protein change:

R2146W

Links:

dbSNP: rs375805896

NCBI 1000 Genomes Browser:

rs375805896

Molecular consequence:

NM_016239.4:c.6436C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ear malformation
Synonyms:: CUP EAR; Abnormality of the ear
Identifiers:: MONDO: MONDO:0007500; MedGen: C0266589; OMIM: 128600; Human Phenotype Ontology: HP:0000598

Recent activity

Clear Turn Off Turn On

Nerita polita isolate Reu.2 cytochrome c oxidase subunit I gene, partial cds; mi...
Nerita polita isolate Reu.2 cytochrome c oxidase subunit I gene, partial cds; mitochondrial
gi|657173941|gb|KJ458472.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001755463	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001755463

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 10, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755463.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine