NM_002968.3(SALL1):c.379G>C (p.Val127Leu) AND not provided

Clinical significance:Benign (Last evaluated: Feb 12, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000439131.5

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_002968.3: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
  • NM_002968.2:c.379G>C
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_002968.3:c.379G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000511642Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Benign
(Aug 19, 2016)
germlineclinical testing

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

SCV000522217GeneDxcriteria provided, single submitter
Benign
(Feb 12, 2019)
germlineclinical testing

Citation Link,

SCV000843558Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jul 31, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F.

Kidney Int. 2014 Jun;85(6):1429-33. doi: 10.1038/ki.2013.508. Epub 2014 Jan 15.

PubMed [citation]
PMID:
24429398
PMCID:
PMC4040148
See all PubMed Citations (3)

Details of each submission

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000511642.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.002898not providednot provided

From GeneDx, SCV000522217.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 24429398)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV000843558.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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