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NM_021973.3(HAND2):c.214G>A (p.Ala72Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 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:
RCV004399051.1

Allele description [Variation Report for NM_021973.3(HAND2):c.214G>A (p.Ala72Thr)]

NM_021973.3(HAND2):c.214G>A (p.Ala72Thr)

Genes:
HAND2-AS1:HAND2 antisense RNA 1 [Gene - OMIM - HGNC]
HAND2:heart and neural crest derivatives expressed 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q34.1
Genomic location:
Preferred name:
NM_021973.3(HAND2):c.214G>A (p.Ala72Thr)
HGVS:
  • NC_000004.12:g.173529076C>T
  • NG_046954.1:g.6152G>A
  • NM_021973.3:c.214G>AMANE SELECT
  • NP_068808.1:p.Ala72Thr
  • NC_000004.11:g.174450227C>T
  • NM_021973.2:c.214G>A
Protein change:
A72T
Molecular consequence:
  • NM_021973.3:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004881026Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 14, 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, SCV004881026.1

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

Description

The c.214G>A (p.A72T) alteration is located in exon 1 (coding exon 1) of the HAND2 gene. This alteration results from a G to A substitution at nucleotide position 214, causing the alanine (A) at amino acid position 72 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: May 7, 2024