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NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs) AND not provided

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
May 3, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001169891.7

Allele description [Variation Report for NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs)]

NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs)

Gene:
SYNJ1:synaptojanin 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs)
HGVS:
  • NC_000021.9:g.32666465AACA[2]
  • NC_000021.9:g.32666465_32666468AACA[2]
  • NG_030017.2:g.66565GTTT[2]
  • NM_001160302.2:c.1909_1912TGTT[2]
  • NM_001160306.2:c.1903_1906del
  • NM_003895.4:c.2026_2029TGTT[2]
  • NM_203446.3:c.1918_1921delMANE SELECT
  • NP_001153774.1:p.Val640Leufs
  • NP_001153774.1:p.Val640fs
  • NP_001153778.1:p.Val635fs
  • NP_003886.3:p.Val679Leufs
  • NP_003886.3:p.Val679fs
  • NP_982271.3:p.Val640fs
  • NC_000021.8:g.34038774_34038777del
  • NC_000021.8:g.34038775AACA[2]
  • NG_030017.1:g.66567GTTT[2]
  • NM_001160302.1:c.1918_1921del
  • NM_001160306.2:c.1903_1906del
  • NM_003895.3:c.2035_2038del
Protein change:
V635fs
Links:
dbSNP: rs1488690709
NCBI 1000 Genomes Browser:
rs1488690709
Molecular consequence:
  • NM_001160302.2:c.1909_1912TGTT[2] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001160306.2:c.1903_1906del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003895.4:c.2026_2029TGTT[2] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_203446.3:c.1918_1921del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001251901Genomic Research Center, Shahid Beheshti University of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(May 3, 2020)
unknownclinical testing

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

SCV002016839Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Sep 12, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnonot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot 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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV001251901.1

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

From Revvity Omics, Revvity, SCV002016839.3

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

Last Updated: Sep 29, 2024