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NM_015662.3(IFT172):c.2632A>G (p.Ile878Val) AND Short-rib thoracic dysplasia 10 with or without polydactyly

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 9, 2021
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:
RCV001290431.2

Allele description

NM_015662.3(IFT172):c.2632A>G (p.Ile878Val)

Genes:
LOC126806174:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27681686-27682885 [Gene]
IFT172:intraflagellar transport 172 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_015662.3(IFT172):c.2632A>G (p.Ile878Val)
HGVS:
  • NC_000002.12:g.27459719T>C
  • NG_034068.1:g.35093A>G
  • NM_015662.3:c.2632A>GMANE SELECT
  • NP_056477.1:p.Ile878Val
  • NC_000002.11:g.27682586T>C
Protein change:
I878V
Links:
dbSNP: rs1045778698
NCBI 1000 Genomes Browser:
rs1045778698
Molecular consequence:
  • NM_015662.3:c.2632A>G - 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
SCV001478460Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 9, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV001478460.1

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

Description

The variant (rs1045778698) is listed in gnomAD with a frequency of 0.021% (60/282274) (02/05/2021). In bioinformatics, the change is classified as "probably disease causing" (CADDPhred 25.8, MutationTaster). The variant is currently classified as a "variant of uncertain clinical significance" (ACMG criteria).

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

Last Updated: Feb 1, 2025