NM_016519.6(AMBN):c.295T>C (p.Tyr99His) AND Amelogenesis imperfecta type 1F

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 4, 2023
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:: RCV003389268.1

Allele description [Variation Report for NM_016519.6(AMBN):c.295T>C (p.Tyr99His)]

NM_016519.6(AMBN):c.295T>C (p.Tyr99His)

Gene:

AMBN:ameloblastin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q13.3

Genomic location:

Preferred name:

NM_016519.6(AMBN):c.295T>C (p.Tyr99His)

HGVS:

NC_000004.12:g.70601418T>C
NG_042078.1:g.14161T>C
NM_016519.6:c.295T>CMANE SELECT
NP_057603.1:p.Tyr99His
NC_000004.11:g.71467135T>C
NM_016519.5:c.295T>C

Protein change:

Y99H

Molecular consequence:

NM_016519.6:c.295T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Amelogenesis imperfecta type 1F (AI1F)
Synonyms:: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IF; Amelogenesis imperfecta, type IF
Identifiers:: MONDO: MONDO:0014560; MedGen: C4225394; Orphanet: 88661; OMIM: 616270

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003923338	Leeds Amelogenesis Imperfecta Research Group, University of Leeds	no assertion criteria provided	Likely pathogenic (May 4, 2023)	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003923338

Leeds Amelogenesis Imperfecta Research Group, University of Leeds

no assertion criteria provided

Likely pathogenic
(May 4, 2023)

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	1	not provided	research

Details of each submission

From Leeds Amelogenesis Imperfecta Research Group, University of Leeds, SCV003923338.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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