NM_133261.3(GIPC3):c.320G>C (p.Arg107Pro) AND Autosomal recessive nonsyndromic hearing loss 15

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 10, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001328535.1

Allele description [Variation Report for NM_133261.3(GIPC3):c.320G>C (p.Arg107Pro)]

NM_133261.3(GIPC3):c.320G>C (p.Arg107Pro)

Gene:

GIPC3:GIPC PDZ domain containing family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_133261.3(GIPC3):c.320G>C (p.Arg107Pro)

HGVS:

NC_000019.10:g.3586589G>C
NG_031943.1:g.6019G>C
NM_133261.3:c.320G>CMANE SELECT
NP_573568.1:p.Arg107Pro
NC_000019.9:g.3586587G>C

Protein change:

R107P

Links:

dbSNP: rs2032370674

NCBI 1000 Genomes Browser:

rs2032370674

Molecular consequence:

NM_133261.3:c.320G>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein structure [Variation Ontology: 0060]

Observations:

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 15
Synonyms:: DEAFNESS, AUTOSOMAL RECESSIVE 72; DEAFNESS, AUTOSOMAL RECESSIVE 95; Deafness, autosomal recessive 15
Identifiers:: MONDO: MONDO:0011160; MedGen: C1866094; Orphanet: 90636; OMIM: 601869

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001519655	Hereditary Hearing Loss Research Unit, University of Madras	no assertion criteria provided	Uncertain significance (Sep 10, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001519655

Hereditary Hearing Loss Research Unit, University of Madras

no assertion criteria provided

Uncertain significance
(Sep 10, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
South - Asian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Hereditary Hearing Loss Research Unit, University of Madras, SCV001519655.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	South - Asian	1	not provided	not provided	clinical testing	not provided

Description

Segregation analysis confirmed the variant co-segregates in his family

#	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		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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