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NM_182641.4(BPTF):c.543C>G (p.Asp181Glu) AND Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 3, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002266749.1

Allele description [Variation Report for NM_182641.4(BPTF):c.543C>G (p.Asp181Glu)]

NM_182641.4(BPTF):c.543C>G (p.Asp181Glu)

Genes:
LOC130061496:ATAC-STARR-seq lymphoblastoid active region 12632 [Gene]
BPTF:bromodomain PHD finger transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q24.2
Genomic location:
Preferred name:
NM_182641.4(BPTF):c.543C>G (p.Asp181Glu)
HGVS:
  • NC_000017.11:g.67826267C>G
  • NG_052828.1:g.5751C>G
  • NM_004459.7:c.543C>G
  • NM_182641.4:c.543C>GMANE SELECT
  • NP_004450.3:p.Asp181Glu
  • NP_872579.2:p.Asp181Glu
  • NC_000017.10:g.65822383C>G
Protein change:
D181E
Links:
dbSNP: rs758332344
NCBI 1000 Genomes Browser:
rs758332344
Molecular consequence:
  • NM_004459.7:c.543C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182641.4:c.543C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Identifiers:
MONDO: MONDO:0060596; MedGen: C4540327; OMIM: 617755

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002548837New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Sep 3, 2021) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548837.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024