NM_002968.3(SALL1):c.1705_1707dup (p.Phe569_Ile570insPhe) AND Townes-Brocks syndrome 1

Germline classification:: Uncertain significance (1 submission)
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:: RCV003445316.2

Allele description [Variation Report for NM_002968.3(SALL1):c.1705_1707dup (p.Phe569_Ile570insPhe)]

NM_002968.3(SALL1):c.1705_1707dup (p.Phe569_Ile570insPhe)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

16q12.1

Genomic location:

Preferred name:

NM_002968.3(SALL1):c.1705_1707dup (p.Phe569_Ile570insPhe)

HGVS:

NC_000016.10:g.51140516_51140518dup
NG_007990.1:g.15756_15758dup
NM_001127892.2:c.1414_1416dup
NM_002968.3:c.1705_1707dupMANE SELECT
NP_001121364.1:p.Phe472_Ile473insPhe
NP_002959.2:p.Phe569_Ile570insPhe
NP_002959.2:p.Phe569_Ile570insPhe
LRG_674t1:c.1704_1706dup
LRG_674:g.15756_15758dup
LRG_674p1:p.Phe569_Ile570insPhe
NC_000016.9:g.51174427_51174429dup
NM_002968.2:c.1704_1706dup

Molecular consequence:

NM_001127892.2:c.1414_1416dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_002968.3:c.1705_1707dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV004171853	Neuberg Centre For Genomic Medicine, NCGM	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004171853

Neuberg Centre For Genomic Medicine, NCGM

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

clinical testing

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

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 Neuberg Centre For Genomic Medicine, NCGM, SCV004171853.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Apr 6, 2024

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