NM_001097577.3(ANG):c.368G>C (p.Gly123Ala) AND Frontotemporal dementia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 2, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001848613.2

Allele description [Variation Report for NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)]

NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)

Genes:
EGILA:EGFR interacting lncRNA [Gene - HGNC]
ANG:angiogenin [Gene - OMIM - HGNC]
RNASE4:ribonuclease A family member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)
HGVS:
  • NC_000014.9:g.20693932G>C
  • NG_008717.2:g.14756G>C
  • NG_033053.1:g.14720G>C
  • NM_001097577.3:c.368G>CMANE SELECT
  • NM_001145.4:c.368G>C
  • NM_001282192.2:c.-18+282G>C
  • NM_001282193.2:c.-17-5423G>C
  • NM_001385271.1:c.368G>C
  • NM_001385272.1:c.368G>C
  • NM_001385273.1:c.368G>C
  • NM_001385274.1:c.368G>C
  • NM_002937.5:c.-17-5423G>CMANE SELECT
  • NM_194431.3:c.-18+5058G>C
  • NP_001091046.1:p.Gly123Ala
  • NP_001136.1:p.Gly123Ala
  • NP_001372200.1:p.Gly123Ala
  • NP_001372201.1:p.Gly123Ala
  • NP_001372202.1:p.Gly123Ala
  • NP_001372203.1:p.Gly123Ala
  • LRG_653t1:c.368G>C
  • LRG_653:g.14756G>C
  • LRG_653p1:p.Gly123Ala
  • NC_000014.8:g.21162091G>C
Protein change:
G123A
Links:
dbSNP: rs535311762
NCBI 1000 Genomes Browser:
rs535311762
Molecular consequence:
  • NM_001282192.2:c.-18+282G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282193.2:c.-17-5423G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002937.5:c.-17-5423G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_194431.3:c.-18+5058G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001097577.3:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145.4:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385271.1:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385272.1:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385273.1:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385274.1:c.368G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Frontotemporal dementia (FTD1)
Synonyms:
FRONTOTEMPORAL LOBE DEMENTIA; WILHELMSEN-LYNCH DISEASE; Dementia, frontotemporal, with parkinsonism; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0017276; MedGen: C0338451; Orphanet: 282; OMIM: 600274; Human Phenotype Ontology: HP:0002145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106330Guerreiro-Bras Laboratory, Van Andel Institute
no assertion criteria provided
Likely pathogenic
(Feb 2, 2022) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Guerreiro-Bras Laboratory, Van Andel Institute, SCV002106330.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasiannot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024