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NM_002181.4(IHH):c.1A>G (p.Met1Val) AND Brachydactyly type A1A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 13, 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:
RCV003335836.4

Allele description [Variation Report for NM_002181.4(IHH):c.1A>G (p.Met1Val)]

NM_002181.4(IHH):c.1A>G (p.Met1Val)

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.1A>G (p.Met1Val)
HGVS:
  • NC_000002.12:g.219060467T>C
  • NG_016741.1:g.5050A>G
  • NG_016741.2:g.5454A>G
  • NM_002181.3:c.1A>G
  • NM_002181.4:c.1A>GMANE SELECT
  • NP_002172.2:p.Met1Val
  • NC_000002.11:g.219925189T>C
Protein change:
M1V
Molecular consequence:
  • NM_002181.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_002181.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004045967Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Likely pathogenic
(Dec 13, 2022) 		de novoclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV004045967.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024