NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 24, 2021
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:: RCV002536541.2

Allele description [Variation Report for NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser)]

NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser)

Gene:

HERC2:HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q13.1

Genomic location:

Preferred name:

NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser)

HGVS:

NC_000015.10:g.28229535T>C
NG_016355.1:g.97615A>G
NM_004667.4:c.5045A>G
NM_004667.6:c.5045A>GMANE SELECT
NP_004658.3:p.Asn1682Ser
NP_004658.3:p.Asn1682Ser
NC_000015.9:g.28474681T>C
NM_004667.5:c.5045A>G

Protein change:

N1682S

Links:

dbSNP: rs140073033

NCBI 1000 Genomes Browser:

rs140073033

Molecular consequence:

NM_004667.6:c.5045A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003754631	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 24, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003754631

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 24, 2021)

germline

clinical testing

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

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

Citations

PubMed

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X.

Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). doi: 10.1101/mcs.a003756. Print 2019 Apr.

PubMed [citation]

PMID:: 30755392
PMCID:: PMC6549575

Details of each submission

From Ambry Genetics, SCV003754631.2

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

Description

The c.5045A>G (p.N1682S) alteration is located in exon 33 (coding exon 32) of the HERC2 gene. This alteration results from a A to G substitution at nucleotide position 5045, causing the asparagine (N) at amino acid position 1682 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: Oct 8, 2024

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