NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Mar 22, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000757370.20

Allele description [Variation Report for NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)]

NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)

Gene:

HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

Preferred name:

NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)

HGVS:

NC_000015.10:g.72375965C>G
NG_009017.2:g.5215G>C
NM_000520.6:c.8G>CMANE SELECT
NM_001318825.2:c.8G>C
NP_000511.2:p.Ser3Thr
NP_001305754.1:p.Ser3Thr
NC_000015.9:g.72668306C>G
NM_000520.4:c.8G>C
NM_000520.5:c.8G>C
NR_134869.3:n.50G>C

Protein change:

S3T

Links:

dbSNP: rs374524755

NCBI 1000 Genomes Browser:

rs374524755

Molecular consequence:

NM_000520.6:c.8G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001318825.2:c.8G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_134869.3:n.50G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001794479	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Oct 12, 2020)	germline	clinical testing	Citation Link,
SCV004132782	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Oct 1, 2022)	germline	clinical testing	Citation Link,
SCV004219909	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Mar 22, 2023)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 31293106, 27054707, 36907859, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001794479

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Oct 12, 2020)

germline

clinical testing

Citation Link,

SCV004132782

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Oct 1, 2022)

germline

clinical testing

Citation Link,

SCV004219909

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Mar 22, 2023)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

Cecchi AC, Vengoechea ES, Kaseniit KE, Hardy MW, Kiger LA, Mehta N, Haque IS, Moyer K, Page PZ, Muzzey D, Grinzaid KA.

Mol Genet Genomic Med. 2019 Aug;7(8):e836. doi: 10.1002/mgg3.836. Epub 2019 Jul 10.

PubMed [citation]

PMID:: 31293106
PMCID:: PMC6687860

Carrier screening in the era of expanding genetic technology.

Arjunan A, Litwack K, Collins N, Charrow J.

Genet Med. 2016 Dec;18(12):1214-1217. doi: 10.1038/gim.2016.30. Epub 2016 Apr 7.

PubMed [citation]

PMID:: 27054707

See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV001794479.1

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

Description

This variant is associated with the following publications: (PMID: 27054707)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004132782.9

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219909.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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: Oct 13, 2024

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