NM_002968.3(SALL1):c.379G>C (p.Val127Leu) AND Townes syndrome

Clinical significance:Benign (Last evaluated: Jun 30, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001089030.2

Allele description [Variation Report for NM_002968.3(SALL1):c.379G>C (p.Val127Leu)]

NM_002968.3(SALL1):c.379G>C (p.Val127Leu)

Gene:
SALL1:spalt like transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.1
Genomic location:
Preferred name:
NM_002968.3(SALL1):c.379G>C (p.Val127Leu)
HGVS:
  • NC_000016.10:g.51141843C>G
  • NG_007990.1:g.14430G>C
  • NM_001127892.2:c.88G>C
  • NM_002968.2:c.379G>C
  • NM_002968.3:c.379G>CMANE SELECT
  • NP_001121364.1:p.Val30Leu
  • NP_002959.2:p.Val127Leu
  • NP_002959.2:p.Val127Leu
  • LRG_674t1:c.379G>C
  • LRG_674:g.14430G>C
  • LRG_674p1:p.Val127Leu
  • NC_000016.9:g.51175754C>G
Protein change:
V127L
Links:
dbSNP: rs138635817
NCBI 1000 Genomes Browser:
rs138635817
Molecular consequence:
  • NM_001127892.2:c.88G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002968.2:c.379G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002968.3:c.379G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Townes syndrome (TBS)
Synonyms:
Townes-Brocks syndrome
Identifiers:
MONDO: MONDO:0007142; MedGen: C0265246; Orphanet: 857; OMIM: PS107480

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001006368Invitaecriteria provided, single submitter
Benign
(Jun 30, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001006368.3

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

Last Updated: Oct 30, 2021

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