U.S. flag

An official website of the United States government

NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer) AND Townes-Brocks syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2021
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:
RCV002226956.2

Allele description [Variation Report for NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer)]

NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer)

Gene:
SALL1:spalt like transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
16q12.1
Genomic location:
Preferred name:
NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer)
HGVS:
  • NC_000016.10:g.51140853_51140859delinsTGTTTCA
  • NG_007990.1:g.15414_15420delinsTGAAACA
  • NM_001127892.2:c.1072_1078delinsTGAAACA
  • NM_002968.3:c.1363_1369delinsTGAAACAMANE SELECT
  • NP_001121364.1:p.Ala358_Val360delinsTer
  • NP_002959.2:p.Ala455_Val457delinsTer
  • LRG_674:g.15414_15420delinsTGAAACA
  • NC_000016.9:g.51174764_51174770delinsTGTTTCA
Links:
dbSNP: rs2143446286
NCBI 1000 Genomes Browser:
rs2143446286
Molecular consequence:
  • NM_001127892.2:c.1072_1078delinsTGAAACA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002968.3:c.1363_1369delinsTGAAACA - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002505868Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 1, 2021) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical 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 Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, SCV002505868.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024