NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 18, 2014
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:: RCV000150797.4

Allele description [Variation Report for NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu)]

NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu)

Genes:

GPSM2:G protein signaling modulator 2 [Gene - OMIM - HGNC]
CLCC1:chloride channel CLIC like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.3

Genomic location:

Preferred name:

NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu)

HGVS:

NC_000001.11:g.108929761G>C
NG_028108.2:g.59412G>C
NM_001048210.3:c.*2786C>G
NM_001278202.2:c.*2786C>G
NM_001278203.1:c.*2786C>G
NM_001321038.2:c.1876G>C
NM_001321039.3:c.1876G>C
NM_001377458.1:c.*2786C>GMANE SELECT
NM_001377459.1:c.*2791C>G
NM_001377460.1:c.*2791C>G
NM_001377461.1:c.*2786C>G
NM_001377462.1:c.*2791C>G
NM_001377463.1:c.*2786C>G
NM_001377464.1:c.*2786C>G
NM_001377465.1:c.*2786C>G
NM_001377466.1:c.*2786C>G
NM_001377467.1:c.*2786C>G
NM_001377468.1:c.*2791C>G
NM_001377469.1:c.*2786C>G
NM_001377470.1:c.*2786C>G
NM_013296.5:c.1876G>CMANE SELECT
NM_015127.5:c.*2786C>G
NP_001307967.1:p.Val626Leu
NP_001307968.1:p.Val626Leu
NP_037428.3:p.Val626Leu
LRG_1373t1:c.1876G>C
LRG_1373:g.59412G>C
LRG_1373p1:p.Val626Leu
NC_000001.10:g.109472383G>C
NM_001321039.1:c.1876G>C
NM_013296.4:c.1876G>C
NR_165299.1:n.5057C>G

Protein change:

V626L

Links:

dbSNP: rs727503087

NCBI 1000 Genomes Browser:

rs727503087

Molecular consequence:

NM_001048210.3:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001278202.2:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001278203.1:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377458.1:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377459.1:c.*2791C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377460.1:c.*2791C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377461.1:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377462.1:c.*2791C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377463.1:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377464.1:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377465.1:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377466.1:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377467.1:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377468.1:c.*2791C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377469.1:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001377470.1:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_015127.5:c.*2786C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001321038.2:c.1876G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001321039.3:c.1876G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_013296.5:c.1876G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_165299.1:n.5057C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000198317	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Feb 18, 2014)	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

SCV000198317

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Feb 18, 2014)

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	not provided	1	1	not provided	not provided	not provided	clinical 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, Mass General Brigham Personalized Medicine, SCV000198317.4

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

Description

The Val626Leu variant in GPSM2 has not been previously reported in individuals w ith hearing loss and was absent from large population studies. Computational pre diction tools and conservation analyses do not provide strong support for or aga inst an impact to the protein. In summary, additional information is needed to d etermine the clinical significance of this variant.

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

Last Updated: Dec 24, 2022

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