NM_020825.4(CRAMP1):c.470A>G (p.Lys157Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 17, 2021
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:: RCV004220301.1

Allele description [Variation Report for NM_020825.4(CRAMP1):c.470A>G (p.Lys157Arg)]

NM_020825.4(CRAMP1):c.470A>G (p.Lys157Arg)

Gene:

CRAMP1:cramped chromatin regulator homolog 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_020825.4(CRAMP1):c.470A>G (p.Lys157Arg)

HGVS:

NC_000016.10:g.1626096A>G
NM_020825.4:c.470A>GMANE SELECT
NP_065876.3:p.Lys157Arg
NC_000016.9:g.1676097A>G
NM_020825.3:c.470A>G

Protein change:

K157R

Molecular consequence:

NM_020825.4:c.470A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Acrocheilus alutaceus isolate AA1993 S7 ribosomal protein gene, intron 1
Acrocheilus alutaceus isolate AA1993 S7 ribosomal protein gene, intron 1
gi|442560168|gb|JX443312.1|

Nucleotide
LOC100912310 uncharacterized LOC100912310 [Rattus norvegicus]
LOC100912310 uncharacterized LOC100912310 [Rattus norvegicus]
Gene ID:100912310

Gene
Taxonomy Links for Protein (Select 156511213) (1)
Taxonomy
Conserved Domain Links for Protein (Select 530386250) (1)
Conserved Domains
putative protein N-methyltransferase FAM86B1 isoform X7 [Homo sapiens]
putative protein N-methyltransferase FAM86B1 isoform X7 [Homo sapiens]
gi|1370513075|ref|XP_024303082.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003728252	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 17, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003728252

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 17, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003728252.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.470A>G (p.K157R) alteration is located in exon 2 (coding exon 2) of the CRAMP1 gene. This alteration results from a A to G substitution at nucleotide position 470, causing the lysine (K) at amino acid position 157 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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