NM_015971.4(MRPS7):c.536G>A (p.Arg179His) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 20, 2022
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:: RCV003153251.2

Allele description [Variation Report for NM_015971.4(MRPS7):c.536G>A (p.Arg179His)]

NM_015971.4(MRPS7):c.536G>A (p.Arg179His)

Gene:

MRPS7:mitochondrial ribosomal protein S7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_015971.4(MRPS7):c.536G>A (p.Arg179His)

HGVS:

NC_000017.11:g.75265730G>A
NM_015971.4:c.536G>AMANE SELECT
NP_057055.2:p.Arg179His
NC_000017.10:g.73261811G>A
NM_015971.3:c.536G>A

Protein change:

R179H

Links:

dbSNP: rs752619610

NCBI 1000 Genomes Browser:

rs752619610

Molecular consequence:

NM_015971.4:c.536G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Sensorineural hearing loss disorder
Synonyms:: Sensorineural hearing loss; Sensorineural hearing impairment
Identifiers:: MONDO: MONDO:0020678; MeSH: D006319; MedGen: C0018784; Human Phenotype Ontology: HP:0000407

Name:: Premature ovarian insufficiency
Synonyms:: Premature menopause
Identifiers:: MONDO: MONDO:0001119; MedGen: C0025322; Human Phenotype Ontology: HP:0008209

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002574698	Reproductive Development, Murdoch Childrens Research Institute	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 20, 2022)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002574698

Reproductive Development, Murdoch Childrens Research Institute

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 20, 2022)

germline

research

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	research

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 Reproductive Development, Murdoch Childrens Research Institute, SCV002574698.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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: Jun 9, 2024

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