NM_021973.3(HAND2):c.76_96del (p.Ala26_Ala32del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 12, 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:: RCV002948967.3

Allele description [Variation Report for NM_021973.3(HAND2):c.76_96del (p.Ala26_Ala32del)]

NM_021973.3(HAND2):c.76_96del (p.Ala26_Ala32del)

Genes:

HAND2-AS1:HAND2 antisense RNA 1 [Gene - OMIM - HGNC]
HAND2:heart and neural crest derivatives expressed 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q34.1

Genomic location:

Preferred name:

NM_021973.3(HAND2):c.76_96del (p.Ala26_Ala32del)

HGVS:

NC_000004.12:g.173529210_173529230del
NG_046954.1:g.6014_6034del
NM_021973.3:c.76_96delMANE SELECT
NP_068808.1:p.Ala26_Ala32del
NC_000004.11:g.174450345_174450365del
NC_000004.11:g.174450361_174450381del

Molecular consequence:

NM_021973.3:c.76_96del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Cornus sessilis 26S ribosomal RNA gene, partial sequence
Cornus sessilis 26S ribosomal RNA gene, partial sequence
gi|15284140|gb|AF297537.1|

Nucleotide
Cornus sessilis internal transcribed spacer 1 and 5.8S ribosomal RNA gene, compl...
Cornus sessilis internal transcribed spacer 1 and 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|46518813|gb|AY530923.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003278524	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 12, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003278524

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 12, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003278524.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with HAND2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.76_96del, results in the deletion of 7 amino acid(s) of the HAND2 protein (p.Ala26_Ala32del), but otherwise preserves the integrity of the reading frame.

#	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: Sep 29, 2024

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