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NM_000193.4(SHH):c.241A>T (p.Asn81Tyr) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 5, 2024
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:
RCV004781973.1

Allele description [Variation Report for NM_000193.4(SHH):c.241A>T (p.Asn81Tyr)]

NM_000193.4(SHH):c.241A>T (p.Asn81Tyr)

Gene:
SHH:sonic hedgehog signaling molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.3
Genomic location:
Preferred name:
NM_000193.4(SHH):c.241A>T (p.Asn81Tyr)
HGVS:
  • NC_000007.14:g.155811882T>A
  • NG_007504.2:g.5392A>T
  • NM_000193.4:c.241A>TMANE SELECT
  • NP_000184.1:p.Asn81Tyr
  • NC_000007.13:g.155604576T>A
Protein change:
N81Y
Molecular consequence:
  • NM_000193.4:c.241A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Holoprosencephaly 3 (HPE3)
Identifiers:
MONDO: MONDO:0007733; MedGen: C1840529; Orphanet: 2162; OMIM: 142945
Name:
Microphthalmia, isolated, with coloboma 5 (MCOPCB5)
Synonyms:
Microphthalmia with Coloboma 5; MICROPHTHALMIA/COLOBOMA 5
Identifiers:
MONDO: MONDO:0012709; MedGen: C1968843; Orphanet: 98938; OMIM: 611638
Name:
Solitary median maxillary central incisor syndrome
Synonyms:
Solitary median maxillary central incisor; Fused incisors; SMMCI SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007819; MedGen: C1840235; OMIM: 147250; Human Phenotype Ontology: HP:0006315

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005393856Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 5, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn, SCV005393856.1

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

Last Updated: Nov 10, 2024