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NM_173728.4(ARHGEF15):c.322G>A (p.Ala108Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 2023
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:
RCV004022912.1

Allele description [Variation Report for NM_173728.4(ARHGEF15):c.322G>A (p.Ala108Thr)]

NM_173728.4(ARHGEF15):c.322G>A (p.Ala108Thr)

Gene:
ARHGEF15:Rho guanine nucleotide exchange factor 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_173728.4(ARHGEF15):c.322G>A (p.Ala108Thr)
HGVS:
  • NC_000017.11:g.8312361G>A
  • NG_034063.1:g.7124G>A
  • NM_025014.2:c.322G>A
  • NM_173728.4:c.322G>AMANE SELECT
  • NP_079290.1:p.Ala108Thr
  • NP_776089.2:p.Ala108Thr
  • NC_000017.10:g.8215679G>A
  • NM_173728.3:c.322G>A
Protein change:
A108T
Links:
dbSNP: rs139532485
NCBI 1000 Genomes Browser:
rs139532485
Molecular consequence:
  • NM_025014.2:c.322G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173728.4:c.322G>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
SCV004051058Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 19, 2023) 		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, SCV004051058.2

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

Description

The c.322G>A (p.A108T) alteration is located in exon 2 (coding exon 1) of the ARHGEF15 gene. This alteration results from a G to A substitution at nucleotide position 322, causing the alanine (A) at amino acid position 108 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024