NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln) AND Malignant tumor of breast

Germline classification:: Uncertain significance (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:: RCV001269357.2

Allele description [Variation Report for NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)]

NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)

Gene:

EXT1:exostosin glycosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.11

Genomic location:

Preferred name:

NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)

HGVS:

NC_000008.11:g.117807286C>T
NG_007455.2:g.309534G>A
NM_000127.3:c.1814G>AMANE SELECT
NP_000118.2:p.Arg605Gln
LRG_493:g.309534G>A
NC_000008.10:g.118819525C>T

Protein change:

R605Q

Links:

dbSNP: rs755747479

NCBI 1000 Genomes Browser:

rs755747479

Molecular consequence:

NM_000127.3:c.1814G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Malignant tumor of breast
Synonyms:: Malignant breast neoplasm; Cancer breast
Identifiers:: MONDO: MONDO:0007254; MedGen: C0006142

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001448702	Center of Medical Genetics and Primary Health Care	no assertion criteria provided	Uncertain significance	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001448702

Center of Medical Genetics and Primary Health Care

no assertion criteria provided

Uncertain significance

germline

clinical testing

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	clinical testing

Details of each submission

From Center of Medical Genetics and Primary Health Care, SCV001448702.1

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

Last Updated: Sep 29, 2024

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