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NM_014675.5(CROCC):c.4286C>T (p.Ala1429Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 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:
RCV004369936.1

Allele description [Variation Report for NM_014675.5(CROCC):c.4286C>T (p.Ala1429Val)]

NM_014675.5(CROCC):c.4286C>T (p.Ala1429Val)

Genes:
LOC129929537:ATAC-STARR-seq lymphoblastoid silent region 338 [Gene]
CROCC:ciliary rootlet coiled-coil, rootletin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_014675.5(CROCC):c.4286C>T (p.Ala1429Val)
HGVS:
  • NC_000001.11:g.16961011C>T
  • NG_162594.1:g.102C>T
  • NM_014675.5:c.4286C>TMANE SELECT
  • NP_055490.4:p.Ala1429Val
  • NC_000001.10:g.17287506C>T
  • NM_014675.3:c.4286C>T
Protein change:
A1429V
Molecular consequence:
  • NM_014675.5:c.4286C>T - 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
SCV004849452Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 13, 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, SCV004849452.1

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

Description

The c.4286C>T (p.A1429V) alteration is located in exon 27 (coding exon 27) of the CROCC gene. This alteration results from a C to T substitution at nucleotide position 4286, causing the alanine (A) at amino acid position 1429 to be replaced by a valine (V). 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 7, 2024