NM_000400.4(ERCC2):c.1293dup (p.Ile432fs) AND Cerebrooculofacioskeletal syndrome 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 31, 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:: RCV003475594.1

Allele description [Variation Report for NM_000400.4(ERCC2):c.1293dup (p.Ile432fs)]

NM_000400.4(ERCC2):c.1293dup (p.Ile432fs)

Gene:

ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_000400.4(ERCC2):c.1293dup (p.Ile432fs)

HGVS:

NC_000019.10:g.45357647dup
NG_007067.2:g.17944dup
NM_000400.4:c.1293dupMANE SELECT
NP_000391.1:p.Ile432Hisfs
NP_000391.1:p.Ile432fs
LRG_461t1:c.1290dup
LRG_461:g.17944dup
LRG_461p1:p.Ile432Hisfs
NC_000019.9:g.45860901_45860902insG
NC_000019.9:g.45860905dup
NM_000400.3:c.1290dup

Protein change:

I432fs

Molecular consequence:

NM_000400.4:c.1293dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cerebrooculofacioskeletal syndrome 2 (COFS2)
Identifiers:: MONDO: MONDO:0012553; MedGen: C1853102; OMIM: 610756

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004194655	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 31, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004194655

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 31, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004194655.1

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

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

Last Updated: Sep 29, 2024

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