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NM_001002909.4(GPATCH8):c.1921G>A (p.Gly641Ser) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 28, 2024
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:
RCV004388036.1

Allele description [Variation Report for NM_001002909.4(GPATCH8):c.1921G>A (p.Gly641Ser)]

NM_001002909.4(GPATCH8):c.1921G>A (p.Gly641Ser)

Gene:
GPATCH8:G-patch domain containing 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_001002909.4(GPATCH8):c.1921G>A (p.Gly641Ser)
HGVS:
  • NC_000017.11:g.44400156C>T
  • NG_041943.1:g.108447G>A
  • NG_161060.1:g.65C>T
  • NM_001002909.4:c.1921G>AMANE SELECT
  • NM_001304939.2:c.1846G>A
  • NM_001304940.2:c.1687G>A
  • NM_001304941.2:c.1687G>A
  • NM_001304942.2:c.1687G>A
  • NM_001304943.2:c.1687G>A
  • NP_001002909.1:p.Gly641Ser
  • NP_001291868.1:p.Gly616Ser
  • NP_001291869.1:p.Gly563Ser
  • NP_001291870.1:p.Gly563Ser
  • NP_001291871.1:p.Gly563Ser
  • NP_001291872.1:p.Gly563Ser
  • NC_000017.10:g.42477524C>T
  • NM_001002909.2:c.1921G>A
  • NR_036474.1:n.2158G>A
Protein change:
G563S
Molecular consequence:
  • NM_001002909.4:c.1921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304939.2:c.1846G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304940.2:c.1687G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304941.2:c.1687G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304942.2:c.1687G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304943.2:c.1687G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004878487Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 28, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004878487.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024