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NM_004722.4(AP4M1):c.1138-1G>A AND Hereditary spastic paraplegia 50

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 14, 2022
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:
RCV003140480.1

Allele description [Variation Report for NM_004722.4(AP4M1):c.1138-1G>A]

NM_004722.4(AP4M1):c.1138-1G>A

Gene:
AP4M1:adaptor related protein complex 4 subunit mu 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_004722.4(AP4M1):c.1138-1G>A
HGVS:
  • NC_000007.14:g.100106657G>A
  • NG_016312.1:g.10151G>A
  • NG_029454.1:g.18202C>T
  • NG_029454.2:g.25514C>T
  • NM_001363671.2:c.1159-1G>A
  • NM_004722.4:c.1138-1G>AMANE SELECT
  • NC_000007.13:g.99704280G>A
Molecular consequence:
  • NM_001363671.2:c.1159-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004722.4:c.1138-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Hereditary spastic paraplegia 50 (SPG50)
Synonyms:
Spastic paraplegia 50, autosomal recessive
Identifiers:
MONDO: MONDO:0013048; MedGen: C2752008; Orphanet: 280763; OMIM: 612936

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003807224Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 14, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807224.1

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

Description

ACMG classification criteria: PVS1 strong, PM2 moderated

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 10, 2023