NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 16, 2015
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:: RCV000624535.10

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)]

NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)

Gene:

SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)

Other names:

1211delCT; p.Leu370ValfsTer53

HGVS:

NC_000011.10:g.119025271_119025272del
NG_013331.1:g.10634_10635del
NM_001164277.2:c.1042_1043delMANE SELECT
NM_001164278.2:c.1108_1109del
NM_001164279.2:c.823_824del
NM_001164280.2:c.1042_1043del
NM_001467.6:c.1042_1043del
NP_001157749.1:p.Leu348fs
NP_001157749.1:p.Leu348fs
NP_001157750.1:p.Leu370fs
NP_001157751.1:p.Leu275fs
NP_001157752.1:p.Leu348fs
NP_001458.1:p.Leu348fs
LRG_187t1:c.1042_1043del
LRG_187:g.10634_10635del
LRG_187p1:p.Leu348fs
NC_000011.9:g.118895981_118895982del
NC_000011.9:g.118895981_118895982delAG
NM_001164277.1:c.1042_1043del
NM_001164277.1:c.1042_1043delCT
NM_001164278.1:c.1108_1109delCT
NM_001164278.2:c.1108_1109del
NM_001164280.1:c.1042_1043delCT
NM_001467.4:c.1042_1043delCT
NM_001467.5:c.1042_1043delCT
NM_001467.6:c.1042_1043del
NP_001458.1:p.Leu348ValfsTer53
p.Leu370ValfsX53

Protein change:

L275fs

Links:

OMIM: 602671.0006; dbSNP: rs80356491

NCBI 1000 Genomes Browser:

rs80356491

Molecular consequence:

NM_001164277.2:c.1042_1043del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164278.2:c.1108_1109del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164279.2:c.823_824del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001164280.2:c.1042_1043del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001467.6:c.1042_1043del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

protein truncation [Variation Ontology: 0015]

Observations:

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
SCV000741202	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Dec 16, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741202

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Dec 16, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000741202.3

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

Last Updated: Oct 26, 2024

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