NM_000400.4(ERCC2):c.2074A>G (p.Lys692Glu) AND Trichothiodystrophy 1, photosensitive

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002292386.1

Allele description [Variation Report for NM_000400.4(ERCC2):c.2074A>G (p.Lys692Glu)]

NM_000400.4(ERCC2):c.2074A>G (p.Lys692Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

Preferred name:

NM_000400.4(ERCC2):c.2074A>G (p.Lys692Glu)

HGVS:

NC_000019.10:g.45352325T>C
NG_007067.2:g.23263A>G
NM_000400.4:c.2074A>GMANE SELECT
NP_000391.1:p.Lys692Glu
NP_000391.1:p.Lys692Glu
LRG_461t1:c.2074A>G
LRG_461:g.23263A>G
LRG_461p1:p.Lys692Glu
NC_000019.9:g.45855583T>C
NM_000400.3:c.2074A>G
NM_000400.3:c.2074A>G

Protein change:

K692E

Molecular consequence:

NM_000400.4:c.2074A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Trichothiodystrophy 1, photosensitive (TTD1)
Synonyms:: PIBIDS syndrome; TAY SYNDROME; TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS
Identifiers:: MONDO: MONDO:0011125; MedGen: C1866504; Orphanet: 33364; OMIM: 601675

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002572492	Istituto di Genetica Molecolare, National Research Council of Italy	no assertion criteria provided	Pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002572492

Istituto di Genetica Molecolare, National Research Council of Italy

no assertion criteria provided

Pathogenic

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Istituto di Genetica Molecolare, National Research Council of Italy, SCV002572492.1

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

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

Last Updated: May 1, 2024

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