NM_021973.3(HAND2):c.13G>A (p.Gly5Ser) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 2022
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:: RCV002771792.2

Allele description [Variation Report for NM_021973.3(HAND2):c.13G>A (p.Gly5Ser)]

NM_021973.3(HAND2):c.13G>A (p.Gly5Ser)

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.13G>A (p.Gly5Ser)

HGVS:

NC_000004.12:g.173529277C>T
NG_046954.1:g.5951G>A
NM_021973.3:c.13G>AMANE SELECT
NP_068808.1:p.Gly5Ser
NC_000004.11:g.174450428C>T
NM_021973.2:c.13G>A

Protein change:

G5S

Molecular consequence:

NM_021973.3:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Mus musculus vitamin D binding protein (Gc), mRNA
Mus musculus vitamin D binding protein (Gc), mRNA
gi|324710983|ref|NM_008096.2|

Nucleotide
Drosophila grimshawi connector enhancer of ksr (DgriCAF1_cnk-PA) mRNA, complete ...
Drosophila grimshawi connector enhancer of ksr (DgriCAF1_cnk-PA) mRNA, complete cds.
PopSet: 2787449488

PopSet
RecName: Full=Leucine-rich repeat protein soc-2 homolog; AltName: Full=Protein S...
RecName: Full=Leucine-rich repeat protein soc-2 homolog; AltName: Full=Protein Sur-8 homolog; AltName: Full=Protein soc-2 homolog
gi|261277886|sp|B4JTV9.1|SUR8_DROGR

Protein
GC*2 (GC*2A9)=vitamin-D-binding protein/group specific component {exon 11} [huma...
GC*2 (GC*2A9)=vitamin-D-binding protein/group specific component {exon 11} [human, south Germany, Genomic Mutant, 51 nt]
gi|998420|bbm|367995|bbs|164625|gb| 0.1|

Nucleotide
Recurrent Diffuse Midline Glioma, H3 K27M-Mutant
Recurrent Diffuse Midline Glioma, H3 K27M-Mutant

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003581727	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 28, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003581727

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 28, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003581727.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.13G>A (p.G5S) 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 13, causing the glycine (G) at amino acid position 5 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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