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NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs) AND Hereditary spastic paraplegia 47

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV003344024.1

Allele description [Variation Report for NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs)]

NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs)

Genes:
LOC129931235:ATAC-STARR-seq lymphoblastoid active region 1540 [Gene]
DCLRE1B:DNA cross-link repair 1B [Gene - OMIM - HGNC]
AP4B1:adaptor related protein complex 4 subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs)
HGVS:
  • NC_000001.11:g.113904714_113904719delinsTGGC
  • NG_031901.1:g.5401_5406delinsGCCA
  • NG_057565.1:g.5096_5101delinsTGGC
  • NG_164279.1:g.240_245delinsTGGC
  • NM_001253852.3:c.-2_4delinsGCCAMANE SELECT
  • NM_001253853.3:c.-171_-166delinsGCCA
  • NM_001308312.2:c.-2_4delinsGCCA
  • NM_001319947.2:c.-331+6_-331+11delinsTGGC
  • NM_006594.5:c.-2_4delinsGCCA
  • NP_001240781.1:p.Met1fs
  • NP_001295241.1:p.Met1fs
  • NP_006585.2:p.Met1fs
  • LRG_1219:g.5096_5101delinsTGGC
  • NC_000001.10:g.114447336_114447341delinsTGGC
  • NM_006594.2:c.-2_4delAGATGCinsGCCA
  • NM_006594.4:c.-2_4delinsGCCA
Protein change:
M1fs
Links:
dbSNP: rs1558100393
NCBI 1000 Genomes Browser:
rs1558100393
Molecular consequence:
  • NM_001253853.3:c.-171_-166delinsGCCA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001253852.3:c.-2_4delinsGCCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001308312.2:c.-2_4delinsGCCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006594.5:c.-2_4delinsGCCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001253852.3:c.-2_4delinsGCCA - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001308312.2:c.-2_4delinsGCCA - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_006594.5:c.-2_4delinsGCCA - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001319947.2:c.-331+6_-331+11delinsTGGC - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary spastic paraplegia 47
Synonyms:
Cerebral palsy, spastic quadriplegic, 5; adaptor protein 4 (AP-4) deficiency syndrome; Spastic paraplegia 47, autosomal recessive
Identifiers:
MONDO: MONDO:0013551; MedGen: C3279738; Orphanet: 280763; OMIM: 614066

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004050711Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 11, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot 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 Genome-Nilou Lab, SCV004050711.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024