U.S. flag

An official website of the United States government

NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter) AND Heterotaxy, visceral, 5, autosomal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 21, 2019
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:
RCV001267676.1

Allele description [Variation Report for NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter)]

NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter)

Gene:
NODAL:nodal growth differentiation factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter)
HGVS:
  • NC_000010.11:g.70435586G>T
  • NG_012448.2:g.17363C>A
  • NM_001329906.2:c.192C>A
  • NM_018055.5:c.591C>AMANE SELECT
  • NP_001316835.1:p.Tyr64Ter
  • NP_060525.3:p.Tyr197Ter
  • NC_000010.10:g.72195342G>T
  • NM_018055.4:c.591C>A
Protein change:
Y197*
Links:
dbSNP: rs1589152355
NCBI 1000 Genomes Browser:
rs1589152355
Molecular consequence:
  • NM_001329906.2:c.192C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018055.5:c.591C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Heterotaxy, visceral, 5, autosomal (HTX5)
Synonyms:
Heterotaxy, visceral, 5
Identifiers:
MONDO: MONDO:0700112; MedGen: C3495537; Orphanet: 450; OMIM: 270100

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001445912Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 21, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV001445912.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This nonsense variant found in exon 2 of 3 is predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.591C>A (p.Tyr197Ter) variant is classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022