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NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 11, 2016
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:
RCV000597443.4

Allele description [Variation Report for NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr)]

NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr)

Gene:
ARHGAP31:Rho GTPase activating protein 31 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q13.33
Genomic location:
Preferred name:
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr)
HGVS:
  • NC_000003.12:g.119414273C>A
  • NG_007665.2:g.124901C>A
  • NM_020754.4:c.2344C>AMANE SELECT
  • NP_065805.2:p.Pro782Thr
  • NC_000003.11:g.119133120C>A
  • NM_020754.2:c.2344C>A
  • NM_020754.3:c.2344C>A
Protein change:
P782T
Links:
dbSNP: rs139659618
NCBI 1000 Genomes Browser:
rs139659618
Molecular consequence:
  • NM_020754.4:c.2344C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000702376Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Oct 11, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000702376.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024