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NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 21, 2018
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:
RCV002429397.2

Allele description [Variation Report for NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)]

NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)

Gene:
ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)
HGVS:
  • NC_000002.12:g.73448717C>T
  • NG_011690.1:g.67965C>T
  • NM_001378454.1:c.2190C>TMANE SELECT
  • NM_015120.4:c.2193C>T
  • NP_001365383.1:p.Phe730=
  • NP_055935.4:p.Phe731=
  • LRG_741t1:c.2193C>T
  • LRG_741:g.67965C>T
  • LRG_741p1:p.Phe731=
  • NC_000002.11:g.73675844C>T
  • p.Phe729Phe
Links:
dbSNP: rs7598901
NCBI 1000 Genomes Browser:
rs7598901
Molecular consequence:
  • NM_001378454.1:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015120.4:c.2193C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002729445Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Dec 21, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002729445.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024