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NM_020911.2(PLXNA4):c.229G>C (p.Asp77His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 13, 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:
RCV004509378.1

Allele description [Variation Report for NM_020911.2(PLXNA4):c.229G>C (p.Asp77His)]

NM_020911.2(PLXNA4):c.229G>C (p.Asp77His)

Gene:
PLXNA4:plexin A4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.3
Genomic location:
Preferred name:
NM_020911.2(PLXNA4):c.229G>C (p.Asp77His)
HGVS:
  • NC_000007.14:g.132508465C>G
  • NM_001105543.2:c.229G>C
  • NM_001393897.1:c.229G>C
  • NM_020911.2:c.229G>CMANE SELECT
  • NM_181775.4:c.229G>C
  • NP_001099013.1:p.Asp77His
  • NP_001380826.1:p.Asp77His
  • NP_065962.1:p.Asp77His
  • NP_861440.2:p.Asp77His
  • NC_000007.13:g.132193224C>G
  • NM_020911.1:c.229G>C
Protein change:
D77H
Molecular consequence:
  • NM_001105543.2:c.229G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393897.1:c.229G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020911.2:c.229G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181775.4:c.229G>C - 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
SCV005008245Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 13, 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, SCV005008245.1

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

Description

The c.229G>C (p.D77H) alteration is located in exon 2 (coding exon 1) of the PLXNA4 gene. This alteration results from a G to C substitution at nucleotide position 229, causing the aspartic acid (D) at amino acid position 77 to be replaced by a histidine (H). 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: May 7, 2024