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NM_001374828.1(ARID1B):c.4058+1G>C AND Coffin-Siris syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 13, 2015
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:
RCV000415272.1

Allele description [Variation Report for NM_001374828.1(ARID1B):c.4058+1G>C]

NM_001374828.1(ARID1B):c.4058+1G>C

Gene:
ARID1B:AT-rich interaction domain 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.3
Genomic location:
Preferred name:
NM_001374828.1(ARID1B):c.4058+1G>C
HGVS:
  • NC_000006.12:g.157189781G>C
  • NG_066624.1:g.418756G>C
  • NM_001363725.2:c.1559+1G>C
  • NM_001371656.1:c.3938+1G>C
  • NM_001374820.1:c.3938+1G>C
  • NM_001374828.1:c.4058+1G>CMANE SELECT
  • NM_017519.3:c.3899+1G>C
  • NM_020732.3:c.3689+1G>C
  • NC_000006.11:g.157510915G>C
Links:
dbSNP: rs1057518691
NCBI 1000 Genomes Browser:
rs1057518691
Molecular consequence:
  • NM_001363725.2:c.1559+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371656.1:c.3938+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374820.1:c.3938+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374828.1:c.4058+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_017519.3:c.3899+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_020732.3:c.3689+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Coffin-Siris syndrome 1 (CSS1)
Synonyms:
Mental retardation, autosomal dominant 12
Identifiers:
MONDO: MONDO:0007617; MedGen: C3281201; Orphanet: 1465; OMIM: 135900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000328796Baylor Genetics
no assertion criteria provided
Pathogenic
(Feb 13, 2015) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedclinical testing

Details of each submission

From Baylor Genetics, SCV000328796.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000508680.4)		not provided

Description

This pathogenic variant was reported in an individual with delayed motor milestones, delayed speech, intellectual disability, history of failure to thrive, mild scoliosis, hypoglycemia, history of seizure during an episode of coma associated with hypoglycemia and metabolic acidosis, and G6PD deficiency. A homozygous pathogenic variant in G6PD (NM_001042351.1, c.563C>T) was reported in the same individual.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided
(GTR000508680.4)		1not provided1not provided

Last Updated: Jun 10, 2023