NM_002968.3(SALL1):c.870_871dup (p.Gln291fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 10, 2016
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:: RCV000335508.1

Allele description [Variation Report for NM_002968.3(SALL1):c.870_871dup (p.Gln291fs)]

NM_002968.3(SALL1):c.870_871dup (p.Gln291fs)

Gene:

SALL1:spalt like transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

16q12.1

Genomic location:

Preferred name:

NM_002968.3(SALL1):c.870_871dup (p.Gln291fs)

HGVS:

NC_000016.10:g.51141351GA[3]
NG_007990.1:g.14919TC[3]
NM_001127892.2:c.579_580dup
NM_002968.3:c.870_871dupMANE SELECT
NP_001121364.1:p.Gln194fs
NP_002959.2:p.Gln291fs
LRG_674:g.14919TC[3]
NC_000016.9:g.51175261_51175262insGA
NC_000016.9:g.51175262GA[3]
NM_002968.2:c.870_871dupTC

Protein change:

Q194fs

Links:

dbSNP: rs886041236

NCBI 1000 Genomes Browser:

rs886041236

Molecular consequence:

NM_001127892.2:c.579_580dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002968.3:c.870_871dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000329510	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 10, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000329510

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 10, 2016)

germline

clinical testing

Citation Link

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 GeneDx, SCV000329510.3

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

Description

The c.870_871dupTC pathogenic variant in the SALL1 gene causes a frameshift starting with codon Glutamine 291, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 24 of the new reading frame, denoted p.Gln291LeufsX24. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.870_871dupTC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

#	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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