NM_000400.4(ERCC2):c.2068_2069dup (p.Lys692fs) AND Cerebrooculofacioskeletal syndrome 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 21, 2024
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:: RCV004576376.1

Allele description [Variation Report for NM_000400.4(ERCC2):c.2068_2069dup (p.Lys692fs)]

NM_000400.4(ERCC2):c.2068_2069dup (p.Lys692fs)

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.2068_2069dup (p.Lys692fs)

HGVS:

NC_000019.10:g.45352331_45352332dup
NG_007067.2:g.23257_23258dup
NM_000400.4:c.2068_2069dupMANE SELECT
NP_000391.1:p.Lys692Glyfs
NP_000391.1:p.Lys692fs
LRG_461t1:c.2067_2068dup
LRG_461:g.23257_23258dup
LRG_461p1:p.Lys692Glyfs
NC_000019.9:g.45855589_45855590dup
NM_000400.3:c.2067_2068dup

Protein change:

K692fs

Molecular consequence:

NM_000400.4:c.2068_2069dup - 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
SCV005060310	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 21, 2024)	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

SCV005060310

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 21, 2024)

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, SCV005060310.1

#	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: Jun 17, 2024

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