NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) AND COFS syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000358951.6

Allele description [Variation Report for NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)]

NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)

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.3122A>C (p.Gln1041Pro)

HGVS:

NC_000010.11:g.49470838T>G
NG_009442.1:g.73264A>C
NM_000124.4:c.3122A>CMANE SELECT
NM_001346440.2:c.3122A>C
NP_000115.1:p.Gln1041Pro
NP_001333369.1:p.Gln1041Pro
LRG_465t1:c.3122A>C
LRG_465:g.73264A>C
NC_000010.10:g.50678884T>G
NM_000124.2:c.3122A>C
NM_000124.3:c.3122A>C

Protein change:

Q1041P

Links:

dbSNP: rs139007661

NCBI 1000 Genomes Browser:

rs139007661

Molecular consequence:

NM_000124.4:c.3122A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001346440.2:c.3122A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: COFS syndrome
Synonyms:: Cerebro-oculo-facio-skeletal syndrome; Cerebrooculofacioskeletal Syndrome; PENA-SHOKEIR SYNDROME, TYPE II
Identifiers:: MONDO: MONDO:0008926; MedGen: C5399761; OMIM: PS214150

Recent activity

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HMG box transcription factor BBX isoform X2 [Homo sapiens]
HMG box transcription factor BBX isoform X2 [Homo sapiens]
gi|1370484695|ref|XP_024309413.1|

Protein
HMG box transcription factor BBX isoform X4 [Homo sapiens]
HMG box transcription factor BBX isoform X4 [Homo sapiens]
gi|1370484723|ref|XP_024309424.1|

Protein
HMG box transcription factor BBX isoform X7 [Homo sapiens]
HMG box transcription factor BBX isoform X7 [Homo sapiens]
gi|1370484727|ref|XP_024309426.1|

Protein
HMG box transcription factor BBX isoform X9 [Homo sapiens]
HMG box transcription factor BBX isoform X9 [Homo sapiens]
gi|1370484733|ref|XP_024309429.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000362812	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000362812

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000362812.2

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

#	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: Sep 29, 2024

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