NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Mar 4, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414912.1

Allele description [Variation Report for NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter)]

NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter)

Gene:
SMARCAL1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter)
HGVS:
  • NC_000002.12:g.216415427C>A
  • NG_009771.1:g.8014C>A
  • NM_001127207.2:c.723C>A
  • NM_014140.3:c.723C>A
  • NP_001120679.1:p.Cys241Ter
  • NP_054859.2:p.Cys241Ter
  • LRG_108t1:c.723C>A
  • LRG_108:g.8014C>A
  • LRG_108p1:p.Cys241Ter
  • NC_000002.11:g.217280150C>A
  • NM_001127207.1:c.723C>A
Protein change:
C241*
Links:
dbSNP: rs748106387
NCBI 1000 Genomes Browser:
rs748106387
Molecular consequence:
  • NM_001127207.2:c.723C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014140.3:c.723C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Atrioventricular septal defect (AVSD)
Synonyms:
AVC DEFECT; Atrioventricular canal defect; Endocardial cushion defect
Identifiers:
MONDO: MONDO:0020290; MedGen: C1389018; OMIM: PS606215; Human Phenotype Ontology: HP:0006695
Name:
Short stature
Synonyms:
Decreased body height; Height less than 3rd percentile; Small stature; See all synonyms [MedGen]
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322
Name:
Focal segmental glomerulosclerosis (FSGS)
Synonyms:
Focal and segmental glomerular sclerosis; Focal and segmental glomerulosclerosis; Glomerulosclerosis, focal; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0005363; MedGen: C0017668; OMIM: PS603278; Human Phenotype Ontology: HP:0000097
Name:
Microcephaly
Synonyms:
Reduced head circumference; Small head circumference; small calvarium; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Small for gestational age
Synonyms:
Birth weight less than 10th percentile; Low birth weight
Identifiers:
MedGen: C0235991; Human Phenotype Ontology: HP:0001518
Name:
Disproportionate short-trunk short stature
Synonyms:
Disproportionate short-trunked dwarfism; Disproportionate short-trunked short stature; Short-trunked dwarfism
Identifiers:
MedGen: C1846435; Human Phenotype Ontology: HP:0003521
Name:
Decreased body weight
Synonyms:
Decreased weight; Low body weight; Low weight; See all synonyms [MedGen]
Identifiers:
MedGen: C1844806; Human Phenotype Ontology: HP:0004325
Name:
Congenital microcephaly
Synonyms:
Head circumference small for gestational age; Congenital decreased head circumference; Congenital small head; See all synonyms [MedGen]
Identifiers:
MedGen: C2677180; Human Phenotype Ontology: HP:0011451
Name:
Steroid-resistant nephrotic syndrome
Identifiers:
MONDO: MONDO:0044765; MedGen: C0403397; Human Phenotype Ontology: HP:0012588

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000493053Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Mar 4, 2014)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000493053.1

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

Last Updated: Oct 8, 2021

Support Center