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NM_182628.3(CFAP100):c.1771A>G (p.Lys591Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 5, 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:
RCV004353768.1

Allele description [Variation Report for NM_182628.3(CFAP100):c.1771A>G (p.Lys591Glu)]

NM_182628.3(CFAP100):c.1771A>G (p.Lys591Glu)

Gene:
CFAP100:cilia and flagella associated protein 100 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_182628.3(CFAP100):c.1771A>G (p.Lys591Glu)
HGVS:
  • NC_000003.12:g.126436339A>G
  • NM_182628.3:c.1771A>GMANE SELECT
  • NP_872434.2:p.Lys591Glu
  • NC_000003.11:g.126155182A>G
  • NM_182628.2:c.1771A>G
Protein change:
K591E
Molecular consequence:
  • NM_182628.3:c.1771A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004083837Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 5, 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, SCV004083837.2

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

Description

The c.1771A>G (p.K591E) alteration is located in exon 17 (coding exon 16) of the CFAP100 gene. This alteration results from a A to G substitution at nucleotide position 1771, causing the lysine (K) at amino acid position 591 to be replaced by a glutamic acid (E). 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: Nov 3, 2024