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NM_001177701.3(IFT27):c.203A>C (p.Lys68Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2023
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:
RCV003266334.2

Allele description [Variation Report for NM_001177701.3(IFT27):c.203A>C (p.Lys68Thr)]

NM_001177701.3(IFT27):c.203A>C (p.Lys68Thr)

Genes:
CACNG2-DT:CACNG2 divergent transcript [Gene - HGNC]
LOC126863139:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37161913-37163112 [Gene]
IFT27:intraflagellar transport 27 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.3
Genomic location:
Preferred name:
NM_001177701.3(IFT27):c.203A>C (p.Lys68Thr)
HGVS:
  • NC_000022.11:g.36766169T>G
  • NG_034205.1:g.14965A>C
  • NG_087635.1:g.401T>G
  • NM_001177701.3:c.203A>CMANE SELECT
  • NM_001363003.2:c.203A>C
  • NM_006860.5:c.200A>C
  • NP_001171172.1:p.Lys68Thr
  • NP_001349932.1:p.Lys68Thr
  • NP_006851.1:p.Lys67Thr
  • NC_000022.10:g.37162213T>G
  • NM_001177701.1:c.203A>C
Protein change:
K67T
Molecular consequence:
  • NM_001177701.3:c.203A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363003.2:c.203A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006860.5:c.200A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003969656Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 12, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003969656.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.203A>C (p.K68T) alteration is located in exon 4 (coding exon 4) of the IFT27 gene. This alteration results from a A to C substitution at nucleotide position 203, causing the lysine (K) at amino acid position 68 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024