NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 3, 2021
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:: RCV002551343.2

Allele description [Variation Report for NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter)]

NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter)

Gene:

ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

Preferred name:

NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter)

HGVS:

NC_000010.11:g.49524667T>A
NG_009442.1:g.19435A>T
NG_033155.1:g.4615A>T
NM_000124.2:c.763A>T
NM_000124.4:c.763A>TMANE SELECT
NM_001277058.2:c.763A>T
NM_001277059.2:c.763A>T
NM_001346440.2:c.763A>T
NP_000115.1:p.Lys255Ter
NP_001263987.1:p.Lys255Ter
NP_001263988.1:p.Lys255Ter
NP_001333369.1:p.Lys255Ter
LRG_465t1:c.763A>T
LRG_465:g.19435A>T
NC_000010.10:g.50732713T>A
NM_000124.3:c.763A>T

Protein change:

K255*

Links:

dbSNP: rs999171980

NCBI 1000 Genomes Browser:

rs999171980

Molecular consequence:

NM_000124.4:c.763A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001277058.2:c.763A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001277059.2:c.763A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001346440.2:c.763A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003589347	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 3, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003589347

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 3, 2021)

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, SCV003589347.2

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

Description

The c.763A>T (p.K255*) alteration, located in exon 5 (coding exon 4) of the ERCC6 gene, consists of an A to T substitution at nucleotide position 763. This changes the amino acid from a lysine (K) to a stop codon at amino acid position 255. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.

#	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: May 1, 2024

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