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NM_021076.4(NEFH):c.2368_2370del (p.Lys790del) AND Amyotrophic lateral sclerosis type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000990405.1

Allele description [Variation Report for NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)]

NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)

Gene:
NEFH:neurofilament heavy chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)
HGVS:
  • NC_000022.11:g.29490008_29490010del
  • NG_008404.1:g.14817_14819del
  • NM_021076.4:c.2368_2370delMANE SELECT
  • NP_066554.2:p.Lys790del
  • NC_000022.10:g.29885997_29885999del
  • NC_000022.10:g.29885997_29885999delAAG
  • NM_021076.3:c.2368_2370del
  • NM_021076.3:c.2368_2370delAAG
Protein change:
K790del
Links:
dbSNP: rs59551486
NCBI 1000 Genomes Browser:
rs59551486
Molecular consequence:
  • NM_021076.4:c.2368_2370del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Amyotrophic lateral sclerosis type 1 (ALS1)
Synonyms:
AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
Identifiers:
MONDO: MONDO:0007103; MedGen: C1862939; Orphanet: 803; OMIM: 105400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001141384Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141384.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024