NM_004425.4(ECM1):c.389C>T (p.Thr130Met) AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Jul 5, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001597951.4

Allele description [Variation Report for NM_004425.4(ECM1):c.389C>T (p.Thr130Met)]

NM_004425.4(ECM1):c.389C>T (p.Thr130Met)

Gene:

ECM1:extracellular matrix protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.2

Genomic location:

Preferred name:

NM_004425.4(ECM1):c.389C>T (p.Thr130Met)

HGVS:

NC_000001.11:g.150510879C>T
NG_012062.1:g.7869C>T
NM_001202858.2:c.470C>T
NM_004425.4:c.389C>TMANE SELECT
NM_022664.3:c.389C>T
NP_001189787.1:p.Thr157Met
NP_004416.2:p.Thr130Met
NP_073155.2:p.Thr130Met
NC_000001.10:g.150483355C>T
NM_004425.3:c.389C>T

Protein change:

T130M

Links:

dbSNP: rs3737240

NCBI 1000 Genomes Browser:

rs3737240

Molecular consequence:

NM_001202858.2:c.470C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004425.4:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_022664.3:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens exostosin glycosyltransferase 2 (EXT2), transcript variant 4, mRNA
Homo sapiens exostosin glycosyltransferase 2 (EXT2), transcript variant 4, mRNA
gi|1953526484|ref|NM_001389628.1|

Nucleotide
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|7020529|dbj|BAA91166.1|

Protein
LOC129992696 [Homo sapiens]
LOC129992696 [Homo sapiens]
Gene ID:129992696

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001830238	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jul 5, 2018)	germline	clinical testing	Citation Link,
SCV005283957	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001830238

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jul 5, 2018)

germline

clinical testing

Citation Link,

SCV005283957

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

not provided

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

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, not provided

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV001830238.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005283957.1

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

#	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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