NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val) AND Adams-Oliver syndrome 5

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 1, 2017
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:: RCV000662257.2

Allele description [Variation Report for NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val)]

NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val)

Genes:

LOC126860794:BRD4-independent group 4 enhancer GRCh37_chr9:139392592-139393791 [Gene]
NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val)

HGVS:

NC_000009.12:g.136498951G>A
NG_007458.1:g.51836C>T
NM_017617.5:c.6128C>TMANE SELECT
NP_060087.3:p.Ala2043Val
LRG_1122t1:c.6128C>T
LRG_1122:g.51836C>T
LRG_1122p1:p.Ala2043Val
NC_000009.11:g.139393403G>A
NM_017617.4:c.6128C>T

Protein change:

A2043V

Links:

dbSNP: rs1554826688

NCBI 1000 Genomes Browser:

rs1554826688

Molecular consequence:

NM_017617.5:c.6128C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Adams-Oliver syndrome 5 (AOS5)
Identifiers:: MONDO: MONDO:0014459; MedGen: C4014970; Orphanet: 974; OMIM: 616028

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000747178	Centre of Medical Genetics, University of Antwerp	criteria provided, single submitter (Criteria for classifying variants, Center of Medical Genetics Antwerp, 2018)	Uncertain significance (Dec 1, 2017)	unknown	research	PubMed (1) [See all records that cite this PMID] Criteria_for_Classifying_variants.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000747178

Centre of Medical Genetics, University of Antwerp

criteria provided, single submitter

(Criteria for classifying variants, Center of Medical Genetics Antwerp, 2018)

Uncertain significance
(Dec 1, 2017)

unknown

research

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

Criteria_for_Classifying_variants.docx

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, et al.

Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4.

PubMed [citation]

PMID:: 29924900
PMCID:: PMC6175364

Details of each submission

From Centre of Medical Genetics, University of Antwerp, SCV000747178.1

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

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

Last Updated: Mar 26, 2023

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