NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Non-immune hydrops fetalis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 30, 2020
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:: RCV001375956.2

Allele description [Variation Report for NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)]

NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)

Genes:

HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)

Other names:

p.G12D:GGC>GAC

HGVS:

NC_000011.10:g.534288C>T
NG_007666.1:g.6263G>A
NM_001130442.3:c.35G>A
NM_001318054.2:c.-285G>A
NM_005343.4:c.35G>AMANE SELECT
NM_176795.5:c.35G>A
NP_001123914.1:p.Gly12Asp
NP_001123914.1:p.Gly12Asp
NP_005334.1:p.Gly12Asp
NP_789765.1:p.Gly12Asp
LRG_506t1:c.35G>A
LRG_506:g.6263G>A
LRG_506p1:p.Gly12Asp
NC_000011.9:g.534288C>T
NM_001130442.1:c.35G>A
NM_001130442.2:c.35G>A
NM_005343.2:c.35G>A
NM_005343.3:c.35G>A
P01112:p.Gly12Asp
c.35G>A

Protein change:

G12D; GLY12ASP

Links:

UniProtKB: P01112#VAR_068816; OMIM: 190020.0013; dbSNP: rs104894230

NCBI 1000 Genomes Browser:

rs104894230

Molecular consequence:

NM_001318054.2:c.-285G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001130442.3:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005343.4:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_176795.5:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Non-immune hydrops fetalis (NIHF)
Synonyms:: Idiopathic hydrops fetalis; Familial non-immune hydrops fetalis; Fetal edema
Identifiers:: MONDO: MONDO:0009369; MedGen: C0455988; OMIM: 236750; Human Phenotype Ontology: HP:0001790

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001572945	Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 30, 2020)	de novo	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

SCV001572945

Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 30, 2020)

de novo

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genomic Medicine Lab, University of California San Francisco - CSER-P3EGS, SCV001572945.1

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

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

Last Updated: Apr 15, 2024

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