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NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND Symphalangism affecting the proximal phalanx of the 4th finger

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001775070.9

Allele description [Variation Report for NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)]

NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)

Gene:
HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
Other names:
NM_000545.8(HNF1A):c.1720A>G
HGVS:
  • NC_000012.12:g.120999579A>G
  • NG_011731.2:g.25834=
  • NM_000545.8:c.1720A>GMANE SELECT
  • NM_001306179.2:c.1741A>G
  • NP_000536.6:p.Ser574Gly
  • NP_001293108.2:p.Ser581Gly
  • LRG_522t1:c.1720G=
  • LRG_522:g.25834=
  • NC_000012.11:g.121437382A>G
  • NM_000545.5:c.1720G=
  • p.Ser574Gly
Protein change:
S574G
Links:
dbSNP: rs1169305
NCBI 1000 Genomes Browser:
rs1169305
Molecular consequence:
  • NM_000545.8:c.1720A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306179.2:c.1741A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Symphalangism affecting the proximal phalanx of the 4th finger
Identifiers:
MedGen: C4024448; Human Phenotype Ontology: HP:0009314

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002012364Phenosystems SA
no assertion criteria provided
Likely pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Phenosystems SA, SCV002012364.1

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

Last Updated: Sep 16, 2024