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NM_002181.4(IHH):c.298G>A (p.Asp100Asn) AND Brachydactyly type A1A

Germline classification:
Pathogenic (1 submission)
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:
RCV001804721.2

Allele description [Variation Report for NM_002181.4(IHH):c.298G>A (p.Asp100Asn)]

NM_002181.4(IHH):c.298G>A (p.Asp100Asn)

Gene:
IHH:Indian hedgehog signaling molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_002181.4(IHH):c.298G>A (p.Asp100Asn)
HGVS:
  • NC_000002.12:g.219060170C>T
  • NG_016741.1:g.5347G>A
  • NM_002181.4:c.298G>AMANE SELECT
  • NP_002172.2:p.Asp100Asn
  • NC_000002.11:g.219924892C>T
  • NM_002181.3:c.298G>A
  • Q14623:p.Asp100Asn
Protein change:
D100N; ASP100ASN
Links:
UniProtKB: Q14623#VAR_015984; OMIM: 600726.0004; dbSNP: rs121917855
NCBI 1000 Genomes Browser:
rs121917855
Molecular consequence:
  • NM_002181.4:c.298G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brachydactyly type A1A
Identifiers:
MONDO: MONDO:0020701; MedGen: CN295859

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002053915Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicde novoclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot provided3not providedclinical testing

Citations

PubMed

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

McCready ME, Sweeney E, Fryer AE, Donnai D, Baig A, Racacho L, Warman ML, Hunter AG, Bulman DE.

Hum Genet. 2002 Oct;111(4-5):368-75. Epub 2002 Sep 7.

PubMed [citation]
PMID:
12384778

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 Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002053915.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes3not providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024