NM_015915.5(ATL1):c.84A>G (p.Pro28=) AND multiple conditions

Clinical significance:Benign (Last evaluated: Apr 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000576658.1

Allele description [Variation Report for NM_015915.5(ATL1):c.84A>G (p.Pro28=)]

NM_015915.5(ATL1):c.84A>G (p.Pro28=)

Gene:
ATL1:atlastin GTPase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q22.1
Genomic location:
Preferred name:
NM_015915.5(ATL1):c.84A>G (p.Pro28=)
Other names:
p.P28P:CCA>CCG
HGVS:
  • NC_000014.9:g.50587880A>G
  • NG_009028.1:g.59799A>G
  • NM_001127713.1:c.84A>G
  • NM_015915.4:c.84A>G
  • NM_015915.5:c.84A>GMANE SELECT
  • NM_181598.4:c.84A>G
  • NP_001121185.1:p.Pro28=
  • NP_056999.2:p.Pro28=
  • NP_056999.2:p.Pro28=
  • NP_853629.2:p.Pro28=
  • LRG_360t1:c.84A>G
  • LRG_360t2:c.84A>G
  • LRG_360:g.59799A>G
  • LRG_360p1:p.Pro28=
  • LRG_360p2:p.Pro28=
  • NC_000014.8:g.51054598A>G
Links:
dbSNP: rs35014209
NCBI 1000 Genomes Browser:
rs35014209
Molecular consequence:
  • NM_001127713.1:c.84A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015915.4:c.84A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015915.5:c.84A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181598.4:c.84A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary spastic paraplegia 3A (SPG3A)
Synonyms:
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1; SPG3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008437; MedGen: C2931355; Orphanet: 100984; OMIM: 182600
Name:
Hereditary sensory neuropathy type 1D (HSN1D)
Identifiers:
MONDO: MONDO:0013381; MedGen: C3150972; Orphanet: 36386; OMIM: 613708

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000677511Athena Diagnostics Inccriteria provided, single submitter
Benign
(Apr 30, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV000677511.1

#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: Nov 27, 2021

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