NM_002968.3(SALL1):c.2801del (p.Ser934fs) AND Townes-Brocks syndrome 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 13, 2019
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:: RCV001029827.2

Allele description [Variation Report for NM_002968.3(SALL1):c.2801del (p.Ser934fs)]

NM_002968.3(SALL1):c.2801del (p.Ser934fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

16q12.1

Genomic location:

Preferred name:

NM_002968.3(SALL1):c.2801del (p.Ser934fs)

HGVS:

NC_000016.10:g.51139421del
NG_007990.1:g.16852del
NM_001127892.2:c.2510del
NM_002968.3:c.2801delMANE SELECT
NP_001121364.1:p.Ser837fs
NP_002959.2:p.Ser934fs
LRG_674t1:c.2801del
LRG_674:g.16852del
NC_000016.9:g.51173332del
NM_002968.2:c.2801del

Protein change:

S837fs

Links:

dbSNP: rs1597228490

NCBI 1000 Genomes Browser:

rs1597228490

Molecular consequence:

NM_001127892.2:c.2510del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002968.3:c.2801del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Townes-Brocks syndrome 1 (TBS1)
Synonyms:: DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES; Renal-ear-anal-radial syndrome; Anus, imperforate, with hand, foot and ear anomalies; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0054581; MedGen: C4551481; Orphanet: 857; OMIM: 107480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001192611	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	no assertion criteria provided	Likely pathogenic (Aug 13, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001192611

Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

no assertion criteria provided

Likely pathogenic
(Aug 13, 2019)

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 Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV001192611.1

#	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

Last Updated: Mar 30, 2024

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