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NM_001378454.1(ALMS1):c.10870T>C (p.Ser3624Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 27, 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:
RCV000825865.4

Allele description [Variation Report for NM_001378454.1(ALMS1):c.10870T>C (p.Ser3624Pro)]

NM_001378454.1(ALMS1):c.10870T>C (p.Ser3624Pro)

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.10870T>C (p.Ser3624Pro)
HGVS:
  • NC_000002.12:g.73572747T>C
  • NG_011690.1:g.191995T>C
  • NM_001378454.1:c.10870T>CMANE SELECT
  • NM_015120.4:c.10873T>C
  • NP_001365383.1:p.Ser3624Pro
  • NP_055935.4:p.Ser3625Pro
  • LRG_741t1:c.10873T>C
  • LRG_741:g.191995T>C
  • LRG_741p1:p.Ser3625Pro
  • NC_000002.11:g.73799874T>C
  • NM_015120.4:c.10867T>C
  • p.Ser3623Pro
Protein change:
S3624P
Links:
dbSNP: rs1573030477
NCBI 1000 Genomes Browser:
rs1573030477
Molecular consequence:
  • NM_001378454.1:c.10870T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015120.4:c.10873T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000967350Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Dec 27, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000967350.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Ser3625Pro variant in ALMS1 has not been previously reported in individual s with hearing loss or Alstrom syndrome and was absent from large population dat abases. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser3625Pro variant is uncertain. ACMG/AMP Criteria applie d: PM2.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2022