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NM_004821.3(HAND1):c.579A>C (p.Pro193=) AND Hypoplastic left heart syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 11, 2023
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV002590643.4

Allele description [Variation Report for NM_004821.3(HAND1):c.579A>C (p.Pro193=)]

NM_004821.3(HAND1):c.579A>C (p.Pro193=)

Gene:
HAND1:heart and neural crest derivatives expressed 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.2
Genomic location:
Preferred name:
NM_004821.3(HAND1):c.579A>C (p.Pro193=)
HGVS:
  • NC_000005.10:g.154475875T>G
  • NG_052889.1:g.7390A>C
  • NM_004821.3:c.579A>CMANE SELECT
  • NP_004812.1:p.Pro193=
  • NC_000005.9:g.153855435T>G
Molecular consequence:
  • NM_004821.3:c.579A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hypoplastic left heart syndrome
Synonyms:
Hypoplastic left heart
Identifiers:
MONDO: MONDO:0004933; MedGen: C0152101; Orphanet: 2248; OMIM: PS241550; Human Phenotype Ontology: HP:0004383

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002951132Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Apr 11, 2023)
germlineclinical testing

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

Last Updated: Sep 29, 2024

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