U.S. flag

An official website of the United States government

NM_013296.5(GPSM2):c.1440+15A>G AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 9, 2013
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:
RCV000038781.5

Allele description [Variation Report for NM_013296.5(GPSM2):c.1440+15A>G]

NM_013296.5(GPSM2):c.1440+15A>G

Gene:
GPSM2:G protein signaling modulator 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.3
Genomic location:
Preferred name:
NM_013296.5(GPSM2):c.1440+15A>G
HGVS:
  • NC_000001.11:g.108918804A>G
  • NG_028108.2:g.48455A>G
  • NM_001321038.2:c.1440+15A>G
  • NM_001321039.3:c.1440+15A>G
  • NM_013296.5:c.1440+15A>GMANE SELECT
  • LRG_1373t1:c.1440+15A>G
  • LRG_1373:g.48455A>G
  • NC_000001.10:g.109461426A>G
  • NM_013296.4:c.1440+15A>G
  • c.1440+15A>G
Links:
dbSNP: rs199640162
NCBI 1000 Genomes Browser:
rs199640162
Molecular consequence:
  • NM_001321038.2:c.1440+15A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321039.3:c.1440+15A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_013296.5:c.1440+15A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000062459Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Mar 9, 2013) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical 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, SCV000062459.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

1440+15A>G in intron 12 of GPSM2: This variant is not expected to have clinical significance because it does not alter the splice consensus sequence and has bee n identified in 0.2% (1/572) of Asian chromosomes by the 1000 Genomes Project (d bSNP rs199640162).

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

Last Updated: Dec 24, 2023