NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 23, 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:: RCV004021475.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser)]

NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser)

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.3191A>G (p.Asn1064Ser)

HGVS:

NC_000010.11:g.49470769T>C
NG_009442.1:g.73333A>G
NM_000124.2:c.3191A>G
NM_000124.4:c.3191A>GMANE SELECT
NM_001346440.2:c.3191A>G
NP_000115.1:p.Asn1064Ser
NP_001333369.1:p.Asn1064Ser
LRG_465t1:c.3191A>G
LRG_465:g.73333A>G
NC_000010.10:g.50678815T>C
NM_000124.3:c.3191A>G

Protein change:

N1064S

Links:

dbSNP: rs200093886

NCBI 1000 Genomes Browser:

rs200093886

Molecular consequence:

NM_000124.4:c.3191A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346440.2:c.3191A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Tyrosine 3-Monooxygenase
Tyrosine 3-Monooxygenase
An enzyme that catalyzes the conversion of L-tyrosine, tetrahydrobiopterin, and oxygen to 3,4-dihydroxy-L-phenylalanine, dihydrobiopterin, and water. EC 1.14.16.2....<br/>Year introduced: 1995

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004865276	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 23, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004865276

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 23, 2024)

germline

clinical testing

Citation Link

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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, SCV004865276.1

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

Description

The c.3191A>G (p.N1064S) alteration is located in exon 18 (coding exon 17) of the ERCC6 gene. This alteration results from a A to G substitution at nucleotide position 3191, causing the asparagine (N) at amino acid position 1064 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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 7, 2024

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