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NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) AND Congenital anomaly of kidney and urinary tract

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 24, 2018
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:
RCV001849463.1

Allele description [Variation Report for NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)]

NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)

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.703G>A (p.Ala235Thr)
HGVS:
  • NC_000016.10:g.51141519C>T
  • NG_007990.1:g.14754G>A
  • NM_001127892.2:c.412G>A
  • NM_002968.3:c.703G>AMANE SELECT
  • NP_001121364.1:p.Ala138Thr
  • NP_002959.2:p.Ala235Thr
  • LRG_674t1:c.703G>A
  • LRG_674:g.14754G>A
  • NC_000016.9:g.51175430C>T
  • NM_002968.2:c.703G>A
Protein change:
A138T
Links:
dbSNP: rs761053549
NCBI 1000 Genomes Browser:
rs761053549
Molecular consequence:
  • NM_001127892.2:c.412G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002968.3:c.703G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital anomaly of kidney and urinary tract
Synonyms:
Congenital anomalies of kidney and urinary tract; Congenital anomalies of the kidney and urinary tract
Identifiers:
MONDO: MONDO:0019719; MeSH: C566906; MedGen: C1968949; OMIM: PS610805

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106492Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Likely pathogenic
(Aug 24, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, et al.

J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24.

PubMed [citation]
PMID:
30143558
PMCID:
PMC6115658

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106492.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024