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NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 2022
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:
RCV002298625.2

Allele description [Variation Report for NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)]

NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)

Genes:
LOC126807137:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 [Gene]
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)
HGVS:
  • NC_000004.12:g.113356569G>C
  • NG_009006.2:g.543487G>C
  • NM_001127493.3:c.4400-4254G>C
  • NM_001148.6:c.7951G>CMANE SELECT
  • NM_001354225.2:c.4439-4254G>C
  • NM_001354228.2:c.4328-4254G>C
  • NM_001354230.2:c.4406-4254G>C
  • NM_001354231.2:c.4469-4254G>C
  • NM_001354232.2:c.4463-4254G>C
  • NM_001354235.2:c.4424-4254G>C
  • NM_001354236.2:c.4325-4254G>C
  • NM_001354237.2:c.4505-4254G>C
  • NM_001354239.2:c.4397-4254G>C
  • NM_001354240.2:c.4472-4254G>C
  • NM_001354241.2:c.4472-4254G>C
  • NM_001354242.2:c.4469-4254G>C
  • NM_001354243.2:c.4364-4254G>C
  • NM_001354244.2:c.4361-4254G>C
  • NM_001354245.2:c.4265-4254G>C
  • NM_001354246.2:c.4424-4254G>C
  • NM_001354249.2:c.4241-4254G>C
  • NM_001354252.2:c.4397-4254G>C
  • NM_001354253.2:c.4202-4254G>C
  • NM_001354254.2:c.4376-4254G>C
  • NM_001354255.2:c.4364-4254G>C
  • NM_001354256.2:c.4361-4254G>C
  • NM_001354257.2:c.4166-4254G>C
  • NM_001354258.2:c.4328-4254G>C
  • NM_001354260.2:c.4142-4254G>C
  • NM_001354261.2:c.4286-4254G>C
  • NM_001354262.2:c.4265-4254G>C
  • NM_001354264.2:c.4262-4254G>C
  • NM_001354265.2:c.4424-4254G>C
  • NM_001354266.2:c.4241-4254G>C
  • NM_001354267.2:c.4241-4254G>C
  • NM_001354268.2:c.4229-4254G>C
  • NM_001354269.3:c.4214-4254G>C
  • NM_001354270.2:c.4202-4254G>C
  • NM_001354271.2:c.4142-4254G>C
  • NM_001354272.2:c.4298-4254G>C
  • NM_001354273.2:c.4127-4254G>C
  • NM_001354274.2:c.4193-4254G>C
  • NM_001354275.2:c.4265-4254G>C
  • NM_001354276.2:c.4241-4254G>C
  • NM_001354277.2:c.4043-4254G>C
  • NM_001354278.2:c.1955-4254G>C
  • NM_001354279.2:c.1991-4254G>C
  • NM_001354280.2:c.1976-4254G>C
  • NM_001354281.2:c.1955-4254G>C
  • NM_001354282.2:c.1991-4254G>C
  • NM_001386142.1:c.7717G>C
  • NM_001386143.1:c.4364-4254G>C
  • NM_001386144.1:c.4472-4254G>C
  • NM_001386146.1:c.4208-4254G>C
  • NM_001386147.1:c.4253-4254G>C
  • NM_001386148.2:c.4412-4254G>C
  • NM_001386149.1:c.4208-4254G>C
  • NM_001386150.1:c.4208-4254G>C
  • NM_001386151.1:c.4142-4254G>C
  • NM_001386152.1:c.4484-4254G>C
  • NM_001386153.1:c.4208-4254G>C
  • NM_001386154.1:c.4193-4254G>C
  • NM_001386156.1:c.4166-4254G>C
  • NM_001386157.1:c.4043-4254G>C
  • NM_001386158.1:c.3944-4254G>C
  • NM_001386160.1:c.4271-4254G>C
  • NM_001386161.1:c.4361-4254G>C
  • NM_001386162.1:c.4241-4254G>C
  • NM_001386166.1:c.4351G>C
  • NM_001386167.1:c.827-4254G>C
  • NM_001386174.1:c.8092G>C
  • NM_001386175.1:c.8068G>C
  • NM_001386186.2:c.4412-4254G>C
  • NM_001386187.2:c.4292-4254G>C
  • NM_020977.5:c.4427-4254G>C
  • NP_001139.3:p.Val2651Leu
  • NP_001373071.1:p.Val2573Leu
  • NP_001373095.1:p.Val1451Leu
  • NP_001373103.1:p.Val2698Leu
  • NP_001373104.1:p.Val2690Leu
  • LRG_327t1:c.7951G>C
  • LRG_327:g.543487G>C
  • NC_000004.11:g.114277725G>C
  • NM_001148.4:c.7951G>C
Protein change:
V1451L
Links:
dbSNP: rs777477439
NCBI 1000 Genomes Browser:
rs777477439
Molecular consequence:
  • NM_001127493.3:c.4400-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.2:c.4439-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.2:c.4328-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.2:c.4406-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.2:c.4469-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.2:c.4463-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.2:c.4424-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.2:c.4325-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.2:c.4505-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.2:c.4397-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.2:c.4472-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.2:c.4472-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.2:c.4469-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.2:c.4364-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.2:c.4361-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.2:c.4265-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.2:c.4424-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.2:c.4241-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.2:c.4397-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.2:c.4202-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.2:c.4376-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.2:c.4364-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.2:c.4361-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.2:c.4166-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.2:c.4328-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.2:c.4142-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.2:c.4286-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.2:c.4265-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.2:c.4262-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.2:c.4424-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.2:c.4241-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.2:c.4241-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.2:c.4229-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.3:c.4214-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.2:c.4202-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.2:c.4142-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.2:c.4298-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.2:c.4127-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.2:c.4193-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.2:c.4265-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.2:c.4241-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.2:c.4043-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.2:c.1955-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.2:c.1991-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.2:c.1976-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.2:c.1955-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.2:c.1991-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386143.1:c.4364-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386144.1:c.4472-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386146.1:c.4208-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386147.1:c.4253-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386148.2:c.4412-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386149.1:c.4208-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386150.1:c.4208-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386151.1:c.4142-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386152.1:c.4484-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386153.1:c.4208-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386154.1:c.4193-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386156.1:c.4166-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386157.1:c.4043-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386158.1:c.3944-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386160.1:c.4271-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386161.1:c.4361-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386162.1:c.4241-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386167.1:c.827-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386186.2:c.4412-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386187.2:c.4292-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.5:c.4427-4254G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.7951G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386142.1:c.7717G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386166.1:c.4351G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386174.1:c.8092G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386175.1:c.8068G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002588318GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 25, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002588318.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Located in exon 38, which is reported as being expressed in a brain-specific transcript (Otto et al, 1991; Cunha et al, 2008; Wu et al, 2015)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024