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NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) AND Short-rib thoracic dysplasia 10 with or without polydactyly

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003483653.1

Allele description [Variation Report for NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)]

NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)

Genes:
IFT172:intraflagellar transport 172 [Gene - OMIM - HGNC]
KRTCAP3:keratinocyte associated protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
HGVS:
  • NC_000002.12:g.27446349C>T
  • NG_034068.1:g.48463G>A
  • NM_001168364.2:c.*54C>T
  • NM_001410739.1:c.4600G>A
  • NM_015662.3:c.4666G>AMANE SELECT
  • NP_001397668.1:p.Val1534Met
  • NP_056477.1:p.Val1556Met
  • NC_000002.11:g.27669216C>T
  • NM_015662.2:c.4666G>A
Protein change:
V1534M
Links:
dbSNP: rs141098495
NCBI 1000 Genomes Browser:
rs141098495
Molecular consequence:
  • NM_001168364.2:c.*54C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001410739.1:c.4600G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015662.3:c.4666G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)
Identifiers:
MONDO: MONDO:0014284; MedGen: C3810175; Orphanet: 474; OMIM: 615630

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228908GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228908.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 03-24-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024