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NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln) AND Bardet-Biedl syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 10, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV003229041.1

Allele description [Variation Report for NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln)]

NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln)

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.1715G>A (p.Arg572Gln)
HGVS:
  • NC_000002.12:g.27465860C>T
  • NG_034068.1:g.28952G>A
  • NM_015662.3:c.1715G>AMANE SELECT
  • NP_056477.1:p.Arg572Gln
  • NC_000002.11:g.27688727C>T
Protein change:
R572Q
Links:
dbSNP: rs764302265
NCBI 1000 Genomes Browser:
rs764302265
Molecular consequence:
  • NM_015662.3:c.1715G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bardet-Biedl syndrome 1 (BBS1)
Identifiers:
MONDO: MONDO:0008854; MedGen: C2936862; OMIM: 209900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003926574Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago
no assertion criteria provided
Uncertain significance
(May 10, 2023) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Details of each submission

From Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago, SCV003926574.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024