NM_001198793.1(ARPC4-TTLL3):c.1066T>C (p.Cys356Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 22, 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:: RCV004418103.1

Allele description [Variation Report for NM_001198793.1(ARPC4-TTLL3):c.1066T>C (p.Cys356Arg)]

NM_001198793.1(ARPC4-TTLL3):c.1066T>C (p.Cys356Arg)

Genes:

ARPC4-TTLL3:ARPC4-TTLL3 readthrough [Gene - HGNC]
TTLL3:tubulin tyrosine ligase like 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_001198793.1(ARPC4-TTLL3):c.1066T>C (p.Cys356Arg)

HGVS:

NC_000003.12:g.9827005T>C
NM_001025930.5:c.1312T>C
NM_001198793.1:c.1066T>C
NM_001366051.2:c.883T>C
NM_001387446.1:c.1012T>CMANE SELECT
NM_001387447.1:c.1012T>C
NM_001387448.1:c.883T>C
NM_001387449.1:c.883T>C
NM_001387450.1:c.1057T>C
NM_001387451.1:c.913T>C
NM_001387452.1:c.784T>C
NM_001387453.1:c.784T>C
NM_001387454.1:c.1012T>C
NM_001387455.1:c.1012T>C
NM_001387456.1:c.1012T>C
NM_001387457.1:c.1012T>C
NM_001387458.1:c.784T>C
NM_001387459.1:c.913T>C
NM_001387460.1:c.913T>C
NM_001387461.1:c.883T>C
NM_001387462.1:c.880T>C
NM_001387463.1:c.784T>C
NM_001387464.1:c.913T>C
NM_001387465.1:c.913T>C
NM_001387466.1:c.520T>C
NM_001387467.1:c.247T>C
NP_001021100.3:p.Cys438Arg
NP_001185722.1:p.Cys356Arg
NP_001352980.1:p.Cys295Arg
NP_001374375.1:p.Cys338Arg
NP_001374376.1:p.Cys338Arg
NP_001374377.1:p.Cys295Arg
NP_001374378.1:p.Cys295Arg
NP_001374379.1:p.Cys353Arg
NP_001374380.1:p.Cys305Arg
NP_001374381.1:p.Cys262Arg
NP_001374382.1:p.Cys262Arg
NP_001374383.1:p.Cys338Arg
NP_001374384.1:p.Cys338Arg
NP_001374385.1:p.Cys338Arg
NP_001374386.1:p.Cys338Arg
NP_001374387.1:p.Cys262Arg
NP_001374388.1:p.Cys305Arg
NP_001374389.1:p.Cys305Arg
NP_001374390.1:p.Cys295Arg
NP_001374391.1:p.Cys294Arg
NP_001374392.1:p.Cys262Arg
NP_001374393.1:p.Cys305Arg
NP_001374394.1:p.Cys305Arg
NP_001374395.1:p.Cys174Arg
NP_001374396.1:p.Cys83Arg
NC_000003.11:g.9868689T>C
NR_037162.2:n.1679T>C
NR_170661.1:n.1021T>C
NR_170662.1:n.694T>C
NR_170663.1:n.647T>C
NR_170664.1:n.809T>C
NR_170665.1:n.843T>C

Protein change:

C174R

Molecular consequence:

NM_001025930.5:c.1312T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001198793.1:c.1066T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001366051.2:c.883T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387446.1:c.1012T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387447.1:c.1012T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387448.1:c.883T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387449.1:c.883T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387450.1:c.1057T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387451.1:c.913T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387452.1:c.784T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387453.1:c.784T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387454.1:c.1012T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387455.1:c.1012T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387456.1:c.1012T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387457.1:c.1012T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387458.1:c.784T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387459.1:c.913T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387460.1:c.913T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387461.1:c.883T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387462.1:c.880T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387463.1:c.784T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387464.1:c.913T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387465.1:c.913T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387466.1:c.520T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001387467.1:c.247T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_037162.2:n.1679T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170661.1:n.1021T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170662.1:n.694T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170663.1:n.647T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170664.1:n.809T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170665.1:n.843T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004909599	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004909599

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 22, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004909599.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1066T>C (p.C356R) alteration is located in exon 10 (coding exon 10) of the ARPC4-TTLL3 gene. This alteration results from a T to C substitution at nucleotide position 1066, causing the cysteine (C) at amino acid position 356 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine